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Article

[Mutation analysis of the keratin 9 gene in a pedigree with diffuse epidermolytic plamoplantar keratoderma].

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

Li Ming, Zhang Guo-long, Zhai Jian-xin, Wei Ling, Zhu Xiao-hong, Dai Xun-yi, Yang Li-jia

Abstract excerpt

OBJECTIVE: To analyze the mutation of the keratin 9 gene (KRT9) in a pedigree with epidermolytic plamoplantar keratoderma (EPPK). METHODS: Blood samples were obtained from 4 affected and 3 normal individuals in this family. Mutation screening was carried out by polymerase chain reaction (PCR) and direct DNA sequencing. RESULTS: A heterozygous nucleotide C to T transition at position 484 in exon 1 of the KRT9 gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18683133

Genes

KRT9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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