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000136093 0247_ $$2doi$$a10.1038/ejhg.2010.68
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000136093 0247_ $$2ISSN$$a1018-4813
000136093 0247_ $$2ISSN$$a1476-5438
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000136093 037__ $$aDZNE-2020-02415
000136093 041__ $$aEnglish
000136093 082__ $$a610
000136093 1001_ $$0P:(DE-HGF)0$$aSchlipf, Nina A$$b0
000136093 245__ $$aA total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
000136093 260__ $$aBasingstoke$$bStockton Press$$c2010
000136093 264_1 $$2Crossref$$3online$$bSpringer Science and Business Media LLC$$c2010-05-12
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000136093 520__ $$aThe most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus). However, roughly 60% of patients are negative for SPAST mutations, despite their family history being compatible with AD inheritance. A mutation in the gene for an acetyl-CoA transporter (SLC33A1) has recently been reported in one Chinese family to cause ADHSP-type SPG42. In this study, we screened 220 independent SPAST mutation-negative ADHSP samples for mutations in the SLC33A1 gene by high-resolution melting curve analysis. Conspicuous samples were validated by direct sequencing. Moreover, copy number variations affecting SLC33A1 were screened by multiplex ligation-dependent probe amplification assay. We could not identify potentially disease-causing mutations in our patients either by mutation scanning or by gene dosage analysis, as for the latter specific positive controls are not available to date. As our sample represents ADHSP patients for whom SPAST mutations and almost in all cases ATL1 and REEP1 mutations had been excluded, we consider SLC33A1 gene mutations as being very rare in a European ADHSP cohort, if present at all. To date, as SPG42 has still not been identified in a second, unrelated family, systematic genetic testing for SLC33A1 mutations is not recommended.
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000136093 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x1
000136093 542__ $$2Crossref$$i2010-05-12$$uhttp://www.springer.com/tdm
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000136093 650_7 $$2NLM Chemicals$$aMembrane Transport Proteins
000136093 650_7 $$2NLM Chemicals$$aSLC33A1 protein, human
000136093 650_2 $$2MeSH$$aGenes, Dominant
000136093 650_2 $$2MeSH$$aHumans
000136093 650_2 $$2MeSH$$aMembrane Transport Proteins: genetics
000136093 650_2 $$2MeSH$$aMutation
000136093 650_2 $$2MeSH$$aParaplegia: genetics
000136093 7001_ $$0P:(DE-HGF)0$$aBeetz, Christian$$b1
000136093 7001_ $$0P:(DE-2719)2812018$$aSchüle, Rebecca$$b2$$udzne
000136093 7001_ $$0P:(DE-HGF)0$$aStevanin, Giovanni$$b3
000136093 7001_ $$0P:(DE-HGF)0$$aErichsen, Anne Kjersti$$b4
000136093 7001_ $$0P:(DE-HGF)0$$aForlani, Sylvie$$b5
000136093 7001_ $$0P:(DE-HGF)0$$aZaros, Cécile$$b6
000136093 7001_ $$0P:(DE-2719)9000150$$aKarle, Kathrin$$b7$$udzne
000136093 7001_ $$0P:(DE-HGF)0$$aKlebe, Stephan$$b8
000136093 7001_ $$0P:(DE-HGF)0$$aKlimpe, Sven$$b9
000136093 7001_ $$0P:(DE-HGF)0$$aDurr, Alexandra$$b10
000136093 7001_ $$0P:(DE-HGF)0$$aOtto, Susanne$$b11
000136093 7001_ $$0P:(DE-HGF)0$$aTallaksen, Chantal M E$$b12
000136093 7001_ $$0P:(DE-HGF)0$$aRiess, Olaf$$b13
000136093 7001_ $$0P:(DE-HGF)0$$aBrice, Alexis$$b14
000136093 7001_ $$0P:(DE-HGF)0$$aBauer, Peter$$b15$$eCorresponding author
000136093 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b16$$eLast author$$udzne
000136093 77318 $$2Crossref$$3journal-article$$a10.1038/ejhg.2010.68$$b : Springer Science and Business Media LLC, 2010-05-12$$n9$$p1065-1067$$tEuropean Journal of Human Genetics$$v18$$x1018-4813$$y2010
000136093 773__ $$0PERI:(DE-600)2005160-8$$a10.1038/ejhg.2010.68$$gVol. 18, no. 9, p. 1065 - 1067$$n9$$p1065-1067$$q18:9<1065 - 1067$$tEuropean journal of human genetics$$v18$$x1018-4813$$y2010
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