Article
Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.
American journal of human genetics - 7 Mar 2013
Soong Bing-Wen, Huang Yen-Hua, Tsai Pei-Chien, Huang Chien-Chang, Pan Hung-Chuan, Lu Yi-Chun, Chien Hsin-Ju, Liu Tze-Tze, Chang Ming-Hong, Lin Kon-Ping, Tu Pang-Hsien, Kao Lung-Sen, Lee Yi-Chung
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited neuropathies. Mutations in approximately 45 genes have been identified as being associated with CMT. Nevertheless, the genetic etiologies of at least 30% of CMTs have yet to be elucidated. Using a genome-wide linkage study, we previously mapped a dominant intermediate CMT to chromosomal region 3q28-q29. Subsequent exome sequencing of two...
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