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[Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2012

Li Yan-li, Li Na-na, Wang Yan-ping, Li Ming-rong, Dai Li, Deng Ying, Liu Zhen, Mu De-zhi, Zhu Jun

Abstract excerpt

OBJECTIVE: To analyze potential mutation of keration 9 gene (KRT9) in a Chinese family affected with epidermolytic palmoplantar keratoderma (EPPK) and to correlate genotype with the phenotype. METHODS: Genomic DNA was extracted from peripheral blood samples of 12 patients and 13 healthy individuals from the family and 100 unrelated individuals. Polymerase chain reaction (PCR) was used to amplify exons 1 and 6 of...

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Identifiers

PMID: 22678789
DOI: 10.3760/cma.j.issn.1003-9406.2012.03.007

Genes

KRT9

Provenance

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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