Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

BACKGROUND: Mutations in the gene STUB1, encoding the protein CHIP (C-terminus of HSC70-interacting protein), have recently been suggested as a cause of recessive ataxia based on the findings in few Chinese families. Here we aimed to investigate the phenotypic and genotypic spectrum of STUB1 mutatio...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Synofzik, Matthis, Schüle, Rebecca, Schulze, Martin, Gburek-Augustat, Janina, Schweizer, Roland, Schirmacher, Anja, Krägeloh-Mann, Ingeborg, Gonzalez, Michael, Young, Peter, Züchner, Stephan, Schöls, Ludger, Bauer, Peter
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4021831/
https://ncbi.nlm.nih.gov/pubmed/24742043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-57
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