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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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
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2010
主題:
Short Report
在線閱讀: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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