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[Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2009

Bai Zhuan-li, Feng Yi-guo, Tan Sheng-shun, Kang Rui-hua, Wang Xin-yang, He Da-lin

Abstract excerpt

OBJECTIVE: To investigate the gene mutation in a Chinese pedigree and one sporadic case with pachyonychia congenita type I(PC-1), as well as to explore the relationship between the genotype and phenotype. METHODS: The whole coding region of the KRT16 and KRT6A genes were amplified by long-range polymerase chain reaction (PCR). Six patients with PC-1 were studied, five of them were from a pedigree and the other...

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Source

Identifiers

PMID: 19806570
DOI: 10.3760/cma.j.issn.1003-9406.2009.05.007

Genes

KRT16

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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