A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

The 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...

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Detalhes bibliográficos
Main Authors: Schlipf, Nina A, Beetz, Christian, Schüle, Rebecca, Stevanin, Giovanni, Erichsen, Anne Kjersti, Forlani, Sylvie, Zaros, Cécile, Karle, Kathrin, Klebe, Stephan, Klimpe, Sven, Durr, Alexandra, Otto, Susanne, Tallaksen, Chantal M E, Riess, Olaf, Brice, Alexis, Bauer, Peter, Schöls, Ludger
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987419/
https://ncbi.nlm.nih.gov/pubmed/20461110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.68
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