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Results: 2

1.

Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.

Li M, Pang SY, Song Y, Kung MH, Ho SL, Sham PC.

Clin Genet. 2013 Mar;83(3):269-73. doi: 10.1111/j.1399-0004.2012.01895.x. Epub 2012 May 29.

PMID:
22554020
[PubMed - indexed for MEDLINE]
2.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS.

Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.

PMID:
21106500
[PubMed - indexed for MEDLINE]
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