Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

BACKGROUND: Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal...

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Detaylı Bibliyografya
Asıl Yazarlar: Huang, Lijia, Chardon, Jodi Warman, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2012
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3545966/
https://ncbi.nlm.nih.gov/pubmed/22986007
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-67
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