Articles with "gjb1 gene" as a keyword



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Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

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Published in 2017 at "Chinese Medical Journal"

DOI: 10.4103/0366-6999.204925

Abstract: Background: X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study… read more here.

Keywords: tooth type; gjb1 gene; clinical genetic; charcot marie ... See more keywords