FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study

We aimed to identify the genetic cause of the devastating neurodegenerative disease amyotrophic lateral sclerosis (ALS) in a German family with two affected individuals, and to assess the prevalence of variants in the identified risk gene, FIG4, in a central European ALS cohort. Whole-exome sequenci...

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Publicat a:Eur J Hum Genet
Autors principals: Osmanovic, Alma, Rangnau, Isolde, Kosfeld, Anne, Abdulla, Susanne, Janssen, Claas, Auber, Bernd, Raab, Peter, Preller, Matthias, Petri, Susanne, Weber, Ruthild G
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5315518/
https://ncbi.nlm.nih.gov/pubmed/28051077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.186
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