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已发表论文
在中国家庭中 KRT10 的 p.R156H 突变导致表皮鱼鳞病的严重表型
Authors Li Z, Liu Q, Wang A, Wang H, Li C
Published Date September 2014 Volume 2014:10 Pages 713—715
DOI http://dx.doi.org/10.2147/TCRM.S69128
Received 10 June 2014, Accepted 16 June 2014, Published 1 September 2014
Epidermolytic ichthyosis is a rare genetic disorder characterized by diffuse erythroderma from the time of birth with subsequent appearance of thick, brown scales and occasional blister formation. Mutation has been found in keratin 1 (K1) and keratin 10 (K10) genes.1 Epidermolytic hyperkeratosis (EHK) is mostly inherited in a dominant mode. We report a Chinese family of EHK sufferers and their mutation findings.
