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| Home > Publications Database > Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). > print |
| Home > Publications Database > Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). > print |
| 001 | 139142 | ||
| 005 | 20240321220549.0 | ||
| 024 | 7 | _ | |a 10.1093/brain/aww307 |2 doi |
| 024 | 7 | _ | |a pmid:28137957 |2 pmid |
| 024 | 7 | _ | |a pmc:PMC5278306 |2 pmc |
| 024 | 7 | _ | |a 0006-8950 |2 ISSN |
| 024 | 7 | _ | |a 1460-2156 |2 ISSN |
| 024 | 7 | _ | |a altmetric:16092692 |2 altmetric |
| 037 | _ | _ | |a DZNE-2020-05464 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Estrada-Cuzcano, Alejandro |b 0 |
| 245 | _ | _ | |a Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). |
| 260 | _ | _ | |a Oxford |c 2017 |b Oxford Univ. Press |
| 264 | _ | 1 | |3 online |2 Crossref |b Oxford University Press (OUP) |c 2017-01-30 |
| 264 | _ | 1 | |3 print |2 Crossref |b Oxford University Press (OUP) |c 2017-02-01 |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1592813751_3872 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons. In a Bulgarian family with three siblings affected by complicated hereditary spastic paraplegia, we performed whole exome sequencing and homozygosity mapping and identified a homozygous p.Thr512Ile (c.1535C > T) mutation in ATP13A2. Molecular defects in this gene have been causally associated with Kufor-Rakeb syndrome (#606693), an autosomal recessive form of juvenile-onset parkinsonism, and neuronal ceroid lipofuscinosis (#606693), a neurodegenerative disorder characterized by the intracellular accumulation of autofluorescent lipopigments. Further analysis of 795 index cases with hereditary spastic paraplegia and related disorders revealed two additional families carrying truncating biallelic mutations in ATP13A2. ATP13A2 is a lysosomal P5-type transport ATPase, the activity of which critically depends on catalytic autophosphorylation. Our biochemical and immunocytochemical experiments in COS-1 and HeLa cells and patient-derived fibroblasts demonstrated that the hereditary spastic paraplegia-associated mutations, similarly to the ones causing Kufor-Rakeb syndrome and neuronal ceroid lipofuscinosis, cause loss of ATP13A2 function due to transcript or protein instability and abnormal intracellular localization of the mutant proteins, ultimately impairing the lysosomal and mitochondrial function. Moreover, we provide the first biochemical evidence that disease-causing mutations can affect the catalytic autophosphorylation activity of ATP13A2. Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction. The disease presentation in our patients with hereditary spastic paraplegia was dominated by an adult-onset lower-limb predominant spastic paraparesis. Cognitive impairment was present in most of the cases and ranged from very mild deficits to advanced dementia with fronto-temporal characteristics. Nerve conduction studies revealed involvement of the peripheral motor and sensory nerves. Only one of five patients with hereditary spastic paraplegia showed clinical indication of extrapyramidal involvement in the form of subtle bradykinesia and slight resting tremor. Neuroimaging cranial investigations revealed pronounced vermian and hemispheric cerebellar atrophy. Notably, reduced striatal dopamine was apparent in the brain of one of the patients, who had no clinical signs or symptoms of extrapyramidal involvement. |
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| 536 | _ | _ | |a 344 - Clinical and Health Care Research (POF3-344) |0 G:(DE-HGF)POF3-344 |c POF3-344 |f POF III |x 1 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 650 | _ | 7 | |a ATP13A2 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a Enzyme Inhibitors |2 NLM Chemicals |
| 650 | _ | 7 | |a Leupeptins |2 NLM Chemicals |
| 650 | _ | 7 | |a Proton-Translocating ATPases |0 EC 3.6.3.14 |2 NLM Chemicals |
| 650 | _ | 7 | |a benzyloxycarbonylleucyl-leucyl-leucine aldehyde |0 RF1P63GW3K |2 NLM Chemicals |
| 650 | _ | 2 | |a Adult |2 MeSH |
| 650 | _ | 2 | |a Animals |2 MeSH |
| 650 | _ | 2 | |a Cells, Cultured: cytology |2 MeSH |
| 650 | _ | 2 | |a Cells, Cultured: ultrastructure |2 MeSH |
| 650 | _ | 2 | |a Chlorocebus aethiops |2 MeSH |
| 650 | _ | 2 | |a Cognition Disorders: etiology |2 MeSH |
| 650 | _ | 2 | |a Cognition Disorders: genetics |2 MeSH |
| 650 | _ | 2 | |a Enzyme Inhibitors: pharmacology |2 MeSH |
| 650 | _ | 2 | |a Family Health |2 MeSH |
| 650 | _ | 2 | |a Gene Expression Regulation: drug effects |2 MeSH |
| 650 | _ | 2 | |a Gene Expression Regulation: genetics |2 MeSH |
| 650 | _ | 2 | |a Genetic Predisposition to Disease: genetics |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Leupeptins: pharmacology |2 MeSH |
| 650 | _ | 2 | |a Lysosomes: drug effects |2 MeSH |
| 650 | _ | 2 | |a Lysosomes: metabolism |2 MeSH |
| 650 | _ | 2 | |a Lysosomes: ultrastructure |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Mental Disorders: etiology |2 MeSH |
| 650 | _ | 2 | |a Mental Disorders: genetics |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Mitochondria: drug effects |2 MeSH |
| 650 | _ | 2 | |a Mitochondria: metabolism |2 MeSH |
| 650 | _ | 2 | |a Mitochondria: ultrastructure |2 MeSH |
| 650 | _ | 2 | |a Mutation: genetics |2 MeSH |
| 650 | _ | 2 | |a Neuropsychological Tests |2 MeSH |
| 650 | _ | 2 | |a Proton-Translocating ATPases: genetics |2 MeSH |
| 650 | _ | 2 | |a Psychiatric Status Rating Scales |2 MeSH |
| 650 | _ | 2 | |a Spastic Paraplegia, Hereditary: complications |2 MeSH |
| 650 | _ | 2 | |a Spastic Paraplegia, Hereditary: diagnostic imaging |2 MeSH |
| 650 | _ | 2 | |a Spastic Paraplegia, Hereditary: genetics |2 MeSH |
| 700 | 1 | _ | |a Martin, Shaun |b 1 |
| 700 | 1 | _ | |a Chamova, Teodora |b 2 |
| 700 | 1 | _ | |a Synofzik, Matthis |0 P:(DE-2719)2811275 |b 3 |u dzne |
| 700 | 1 | _ | |a Timmann, Dagmar |b 4 |
| 700 | 1 | _ | |a Holemans, Tine |b 5 |
| 700 | 1 | _ | |a Andreeva, Albena |b 6 |
| 700 | 1 | _ | |a Reichbauer, Jennifer |0 P:(DE-HGF)0 |b 7 |
| 700 | 1 | _ | |a De Rycke, Riet |b 8 |
| 700 | 1 | _ | |a Chang, Dae-In |b 9 |
| 700 | 1 | _ | |a van Veen, Sarah |b 10 |
| 700 | 1 | _ | |a Samuel, Jean |b 11 |
| 700 | 1 | _ | |a Schöls, Ludger |0 P:(DE-2719)2810795 |b 12 |u dzne |
| 700 | 1 | _ | |a Pöppel, Thorsten |b 13 |
| 700 | 1 | _ | |a Mollerup Sørensen, Danny |b 14 |
| 700 | 1 | _ | |a Asselbergh, Bob |b 15 |
| 700 | 1 | _ | |a Klein, Christine |b 16 |
| 700 | 1 | _ | |a Zuchner, Stephan |b 17 |
| 700 | 1 | _ | |a Jordanova, Albena |0 P:(DE-HGF)0 |b 18 |e Corresponding author |
| 700 | 1 | _ | |a Vangheluwe, Peter |b 19 |
| 700 | 1 | _ | |a Tournev, Ivailo |b 20 |
| 700 | 1 | _ | |a Schüle, Rebecca |0 P:(DE-2719)2812018 |b 21 |e Last author |u dzne |
| 773 | 1 | 8 | |a 10.1093/brain/aww307 |b : Oxford University Press (OUP), 2017-01-30 |n 2 |p 287-305 |3 journal-article |2 Crossref |t Brain |v 140 |y 2017 |x 0006-8950 |
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| 999 | C | 5 | |a 10.1038/nmeth0410-248 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/nmeth0410-248 |
| 999 | C | 5 | |a 10.1007/s00415-009-0083-3 |9 -- missing cx lookup -- |2 Crossref |o 10.1007/s00415-009-0083-3 |
| 999 | C | 5 | |a 10.1001/jamaneurol.2013.1174 |9 -- missing cx lookup -- |2 Crossref |o 10.1001/jamaneurol.2013.1174 |
| 999 | C | 5 | |a 10.1002/mds.22996 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/mds.22996 |
| 999 | C | 5 | |a 10.1093/hmg/dds089 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/hmg/dds089 |
| 999 | C | 5 | |a 10.1016/S0092-8674(00)81203-9 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/S0092-8674(00)81203-9 |
| 999 | C | 5 | |a 10.1172/JCI77598 |9 -- missing cx lookup -- |2 Crossref |o 10.1172/JCI77598 |
| 999 | C | 5 | |a 10.1002/ajmg.b.31214 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/ajmg.b.31214 |
| 999 | C | 5 | |a 10.1101/gr.3577405 |9 -- missing cx lookup -- |2 Crossref |o 10.1101/gr.3577405 |
| 999 | C | 5 | |a 10.1002/jnr.23112 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/jnr.23112 |
| 999 | C | 5 | |a 10.1016/j.parkreldis.2010.10.011 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.parkreldis.2010.10.011 |
| 999 | C | 5 | |a 10.1055/s-0034-1389161 |9 -- missing cx lookup -- |2 Crossref |o 10.1055/s-0034-1389161 |
| 999 | C | 5 | |a 10.1016/j.neurobiolaging.2011.11.012 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.neurobiolaging.2011.11.012 |
| 999 | C | 5 | |a 10.1073/pnas.1112368109 |9 -- missing cx lookup -- |2 Crossref |o 10.1073/pnas.1112368109 |
| 999 | C | 5 | |a 10.1212/01.wnl.0000260963.08711.08 |9 -- missing cx lookup -- |2 Crossref |o 10.1212/01.wnl.0000260963.08711.08 |
| 999 | C | 5 | |a 10.1002/mds.22728 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/mds.22728 |
| 999 | C | 5 | |a 10.1002/mds.26129 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/mds.26129 |
| 999 | C | 5 | |a 10.1016/j.nbd.2011.02.009 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.nbd.2011.02.009 |
| 999 | C | 5 | |a 10.1016/j.neulet.2010.03.018 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.neulet.2010.03.018 |
| 999 | C | 5 | |a 10.1007/s00401-013-1115-8 |9 -- missing cx lookup -- |2 Crossref |o 10.1007/s00401-013-1115-8 |
| 999 | C | 5 | |a 10.1016/j.jns.2012.03.025 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.jns.2012.03.025 |
| 999 | C | 5 | |a 10.1038/nature15393 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/nature15393 |
| 999 | C | 5 | |a 10.1038/ng.300 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/ng.300 |
| 999 | C | 5 | |a 10.1002/humu.22836 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/humu.22836 |
| 999 | C | 5 | |a 10.1038/ejhg.2013.29 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/ejhg.2013.29 |
| 999 | C | 5 | |a 10.1093/nar/gku1071 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/nar/gku1071 |
| 999 | C | 5 | |a 10.1016/j.neurobiolaging.2011.12.035 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.neurobiolaging.2011.12.035 |
| 999 | C | 5 | |a 10.1002/mds.23552 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/mds.23552 |
| 999 | C | 5 | |a 10.1016/j.nbd.2011.12.015 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.nbd.2011.12.015 |
| 999 | C | 5 | |a 10.1086/339935 |9 -- missing cx lookup -- |2 Crossref |o 10.1086/339935 |
| 999 | C | 5 | |a 10.1212/WNL.0b013e3182556c05 |9 -- missing cx lookup -- |2 Crossref |o 10.1212/WNL.0b013e3182556c05 |
| 999 | C | 5 | |a 10.1212/NXG.0000000000000098 |9 -- missing cx lookup -- |2 Crossref |o 10.1212/NXG.0000000000000098 |
| 999 | C | 5 | |a 10.1073/pnas.1508220112 |9 -- missing cx lookup -- |2 Crossref |o 10.1073/pnas.1508220112 |
| 999 | C | 5 | |a 10.1038/gim.2015.139 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/gim.2015.139 |
| 999 | C | 5 | |a 10.1002/mus.24980 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/mus.24980 |
| 999 | C | 5 | |a 10.1038/nprot.2015.053 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/nprot.2015.053 |
| 999 | C | 5 | |a 10.1093/nar/gkt1026 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/nar/gkt1026 |
| 999 | C | 5 | |a 10.1093/hmg/ddu099 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/hmg/ddu099 |
| 999 | C | 5 | |a 10.1038/nprot.2009.86 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/nprot.2009.86 |
| 999 | C | 5 | |a 10.1093/bioinformatics/btp324 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/bioinformatics/btp324 |
| 999 | C | 5 | |a 10.1016/j.expneurol.2014.06.011 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.expneurol.2014.06.011 |
| 999 | C | 5 | |a 10.1080/15384101.2015.1093420 |9 -- missing cx lookup -- |2 Crossref |o 10.1080/15384101.2015.1093420 |
| 999 | C | 5 | |y 2016 |2 Crossref |o Martin 2016 |
| 999 | C | 5 | |y 1989 |2 Crossref |o Maruyama 1989 |
| 999 | C | 5 | |a 10.1074/jbc.274.36.25227 |9 -- missing cx lookup -- |2 Crossref |o 10.1074/jbc.274.36.25227 |
| 999 | C | 5 | |a 10.1101/gr.107524.110 |9 -- missing cx lookup -- |2 Crossref |o 10.1101/gr.107524.110 |
| 999 | C | 5 | |a 10.1002/mds.20800 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/mds.20800 |
| 999 | C | 5 | |a 10.1093/brain/awv320 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/brain/awv320 |
| 999 | C | 5 | |a 10.1016/j.ajhg.2013.04.011 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.ajhg.2013.04.011 |
| 999 | C | 5 | |a 10.1016/j.ajhg.2013.04.018 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.ajhg.2013.04.018 |
| 999 | C | 5 | |a 10.1002/mds.26243 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/mds.26243 |
| 999 | C | 5 | |a 10.1093/hmg/ddt623 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/hmg/ddt623 |
| 999 | C | 5 | |a 10.1002/humu.21527 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/humu.21527 |
| 999 | C | 5 | |a 10.1038/ng937 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/ng937 |
| 999 | C | 5 | |a 10.1016/j.ajhg.2013.04.013 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.ajhg.2013.04.013 |
| 999 | C | 5 | |a 10.1016/j.bbrc.2011.11.016 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.bbrc.2011.11.016 |
| 999 | C | 5 | |a 10.1385/CBB:46:3:303 |9 -- missing cx lookup -- |2 Crossref |o 10.1385/CBB:46:3:303 |
| 999 | C | 5 | |a 10.1371/journal.pone.0039942 |9 -- missing cx lookup -- |2 Crossref |o 10.1371/journal.pone.0039942 |
| 999 | C | 5 | |a 10.1002/mds.22399 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/mds.22399 |
| 999 | C | 5 | |a 10.1038/ng1884 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/ng1884 |
| 999 | C | 5 | |a 10.1093/hmg/ddr606 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/hmg/ddr606 |
| 999 | C | 5 | |a 10.1002/acn3.64 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/acn3.64 |
| 999 | C | 5 | |a 10.1038/nbt.2053 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/nbt.2053 |
| 999 | C | 5 | |a 10.1016/j.bbamem.2015.04.008 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.bbamem.2015.04.008 |
| 999 | C | 5 | |a 10.1111/j.1552-6569.2008.00327.x |9 -- missing cx lookup -- |2 Crossref |o 10.1111/j.1552-6569.2008.00327.x |
| 999 | C | 5 | |a 10.1002/mds.23464 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/mds.23464 |
| 999 | C | 5 | |a 10.1016/j.bbrc.2009.03.151 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.bbrc.2009.03.151 |
| 999 | C | 5 | |a 10.1038/nmeth.2089 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/nmeth.2089 |
| 999 | C | 5 | |y 2013 |2 Crossref |o Schneider 2013 |
| 999 | C | 5 | |a 10.1002/mds.22947 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/mds.22947 |
| 999 | C | 5 | |a 10.1212/01.wnl.0000228242.53336.90 |9 -- missing cx lookup -- |2 Crossref |o 10.1212/01.wnl.0000228242.53336.90 |
| 999 | C | 5 | |a 10.1002/ana.24611 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/ana.24611 |
| 999 | C | 5 | |a 10.1093/hmg/ddt057 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/hmg/ddt057 |
| 999 | C | 5 | |a 10.1016/j.ajhg.2012.10.017 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.ajhg.2012.10.017 |
| 999 | C | 5 | |a 10.1038/nmeth.2890 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/nmeth.2890 |
| 999 | C | 5 | |a 10.1093/nar/29.1.308 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/nar/29.1.308 |
| 999 | C | 5 | |a 10.1074/jbc.M112.387191 |9 -- missing cx lookup -- |2 Crossref |o 10.1074/jbc.M112.387191 |
| 999 | C | 5 | |a 10.1093/brain/awt326 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/brain/awt326 |
| 999 | C | 5 | |a 10.1093/brain/aww079 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/brain/aww079 |
| 999 | C | 5 | |a 10.1074/jbc.M111.233874 |9 -- missing cx lookup -- |2 Crossref |o 10.1074/jbc.M111.233874 |
| 999 | C | 5 | |a 10.1016/j.ajhg.2012.11.001 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.ajhg.2012.11.001 |
| 999 | C | 5 | |a 10.1007/BF00690197 |9 -- missing cx lookup -- |2 Crossref |o 10.1007/BF00690197 |
| 999 | C | 5 | |a 10.4161/auto.20256 |9 -- missing cx lookup -- |2 Crossref |o 10.4161/auto.20256 |
| 999 | C | 5 | |a 10.1523/JNEUROSCI.5575-11.2012 |9 -- missing cx lookup -- |2 Crossref |o 10.1523/JNEUROSCI.5575-11.2012 |
| 999 | C | 5 | |a 10.3389/fnmol.2014.00001 |9 -- missing cx lookup -- |2 Crossref |o 10.3389/fnmol.2014.00001 |
| 999 | C | 5 | |a 10.1073/pnas.0906797106 |9 -- missing cx lookup -- |2 Crossref |o 10.1073/pnas.0906797106 |
| 999 | C | 5 | |a 10.1093/brain/awt227 |9 -- missing cx lookup -- |2 Crossref |o 10.1093/brain/awt227 |
| 999 | C | 5 | |a 10.1016/j.mito.2010.07.006 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.mito.2010.07.006 |
| 999 | C | 5 | |a 10.1371/journal.pone.0055526 |9 -- missing cx lookup -- |2 Crossref |o 10.1371/journal.pone.0055526 |
| 999 | C | 5 | |a 10.1038/ng.712 |9 -- missing cx lookup -- |2 Crossref |o 10.1038/ng.712 |
| 999 | C | 5 | |a 10.1016/j.ajhg.2011.07.002 |9 -- missing cx lookup -- |2 Crossref |o 10.1016/j.ajhg.2011.07.002 |
| 999 | C | 5 | |a 10.1002/mds.20511 |9 -- missing cx lookup -- |2 Crossref |o 10.1002/mds.20511 |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
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