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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2014
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Short Report
Accesso online: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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