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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Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2010
Soggetti:
Short Report
Accesso online: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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