Article
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
Human molecular genetics - 1 Nov 2013
Caramins Melody, Colebatch James G, Bainbridge Matthew N, Scherer Steven S, Abrams Charles K, Hackett Emma L, Freidin Mona M, Jhangiani Shalini N, Wang Min, Wu Yuanqing, Muzny Donna M, Lindeman Robert, Gibbs Richard A
Abstract excerpt
We undertook a gene identification and molecular characterization project in a large kindred originally clinically diagnosed with SCA-X1. While presenting with ataxia, this kindred also had some unique peripheral nervous system features. The implicated region on the X chromosome was delineated using haplotyping. Large deletions and duplications were excluded by array comparative genomic hybridization. Exome...
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