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Missense mutations inITPR1cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

✍ Scribed by Lijia Huang, Jodi Warman Chardon, Melissa T Carter, Kathie L Friend, Tracy E Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W Schofield, Stuart Douglas, Dennis E Bulman, Kym M Boycott


Book ID
119911451
Publisher
BioMed Central
Year
2012
Tongue
English
Weight
391 KB
Volume
7
Category
Article
ISSN
1750-1172

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Missense mutations in the AFG3L2 proteol
✍ Claudia Cagnoli; Giovanni Stevanin; Alessandro Brussino; Marco Barberis; Cecilia πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 480 KB

Spinocerebellar ataxia type 28 is an autosomal dominant form of cerebellar ataxia (ADCA) caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m-AAA protease. We screened 366 primarily Caucasian ADCA families, negative for the most common triplet expansions, for point mut