The hHb6 mutation causes monilethrix in a Chinese family

作     者：Ping Liu~1 Aiping Feng~2 Tao Yang~1 Mugen Liu~1 Qing K Wang~(1,3) Jing Yu Liu~1 (1.Key Laboratory of Molecular Biophysics of Ministry of Education and Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan 2.Department of Dermatology,Union Hospital of Huazhong University of Science and Technology,Wuhan 3.Department of Molecular Cardiology,Lemer Research Institute,The Cleveland Clinic Foundation,Cleveland,Ohio,USA) 

会议名称：《遗传学进步与人口健康高峰论坛》

会议日期：2007年

学科分类：0710[理学-生物学] 07[理学] 071007[理学-遗传学] 

摘      要：Clinical data was obtained by examination of patients hair and *** genomic DNA of the family participants was *** exons and exon-intron boundaries of hHb6 were amplified with *** screening was carried out using direct DNA sequence *** fragment length polymorphism(RFLP)analysis was used to confirm the mutation and the mutation cosegregate with the disease in the family.A heterozygous transition c.1204GA(p.E402K)of hHb6 was