TY  - JOUR
AU  - Schlipf, Nina A
AU  - Beetz, Christian
AU  - Schüle, Rebecca
AU  - Stevanin, Giovanni
AU  - Erichsen, Anne Kjersti
AU  - Forlani, Sylvie
AU  - Zaros, Cécile
AU  - Karle, Kathrin
AU  - Klebe, Stephan
AU  - Klimpe, Sven
AU  - Durr, Alexandra
AU  - Otto, Susanne
AU  - Tallaksen, Chantal M E
AU  - Riess, Olaf
AU  - Brice, Alexis
AU  - Bauer, Peter
AU  - Schöls, Ludger
TI  - A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
JO  - European journal of human genetics
VL  - 18
IS  - 9
SN  - 1018-4813
CY  - Basingstoke
PB  - Stockton Press
M1  - DZNE-2020-02415
SP  - 1065-1067
PY  - 2010
AB  - The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus). However, roughly 60
KW  - Genes, Dominant
KW  - Humans
KW  - Membrane Transport Proteins: genetics
KW  - Mutation
KW  - Paraplegia: genetics
KW  - Membrane Transport Proteins (NLM Chemicals)
KW  - SLC33A1 protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:20461110
C2  - pmc:PMC2987419
DO  - DOI:10.1038/ejhg.2010.68
UR  - https://pub.dzne.de/record/136093
ER  -