Mutation detection of type Ⅱ hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix

• Published in: Chinese medical journal Vol. 126; no. 16; pp. 3103 - 3106
• Main Authors: YE, Zhen-zhen, NAN, Xu, ZHAO, Hong-shan, CHEN, Xue-rong, SONG, Qing-hua
• Format: Journal Article
• Language: English
• Published: China Department of Dermatology, Peking University Third Hospital,Beijing 100191, China%Department of Medical Genetics, School of Basic Medical Sciences,Human Disease Genomics Center, Peking University, Beijing 100191, China 01.08.2013
• Subjects: Asian Continental Ancestry Group - genetics; China - ethnology; Humans; Keratins, Hair-Specific - genetics; Keratins, Type II - genetics; Microscopy, Electrochemical, Scanning; Monilethrix - etiology; Monilethrix - genetics; Monilethrix - pathology; Mutation; 中国汉族; 先天性; 家庭; 扫描电子显微镜; 显微镜检查; 突变检测; 突变类型; 蛋白基因; China; keratin; heterozygous mutation; KRT86; monilethrix

Background Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules.In this study,we collected a Han monilethrix family to detect the mutations in patients and investigated the correlation between the genotype and phenotype of monilethrix.Methods...