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[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2008

Feng Ai-ping, Liu Ping, Yang Tao

Abstract excerpt

OBJECTIVE: To identify the human hair basic kerat in 6 gene (hHB6) gene mutation in a mother and her daughter with monilethrix. METHODS: Clinical data were obtained by investigating the pedigree and examining the patients' hair and skin. Total genomic DNA of the family participants was isolated. All exons and exon-intron boundaries of hHB6 were amplified by PCR. Mutation screening was carried out using direct DNA...

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PMID: 18393232

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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