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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2010
Teme:
Short Report
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki