Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

Although many genes have been identified for the autosomal recessive cerebellar ataxias (ARCAs), several patients are unlinked to the respective loci, suggesting further genetic heterogeneity. We combined homozygosity mapping and exome sequencing in a consanguineous Egyptian family with congenital A...

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Библиографические подробности
Главные авторы: Elsayed, Solaf M, Heller, Raoul, Thoenes, Michaela, Zaki, Maha S, Swan, Daniel, Elsobky, Ezzat, Zühlke, Christine, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2014
Предметы:
Short Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3895650/
https://ncbi.nlm.nih.gov/pubmed/23838597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.150
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