ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia

BACKGROUND: Spinocerebellar ataxias (SСAs) are a highly heterogeneous group of inherited neurological disorders. The symptoms of ataxia vary in individual patients and even within the same SCA subtype. A study of a four-generation family with autosomal dominant (AD) non-progressive SCA with mild sym...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Cerebellum Ataxias
Auteurs principaux: Shadrina, M. I., Shulskaya, M. V., Klyushnikov, S. A., Nikopensius, T., Nelis, M., Kivistik, P. A., Komar, A. A., Limborska, S. A., Illarioshkin, S. N., Slominsky, P. A.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2016
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4712497/
https://ncbi.nlm.nih.gov/pubmed/26770814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-016-0040-8
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires