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Article

Keratin 14 gene point mutation in the Köbner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method.

Archives of dermatological research - 1 Jan 1995

Hachisuka H, Morita M, Karashima T, Sasai Y

Abstract excerpt

Recent advances in molecular biology have enabled the association of epidermolysis bullosa simplex (EBS) with point mutations of keratin 14 and/or keratin 5 genes to be established. We describe here the detection of point mutations in genomic DNA from formalin-fixed and paraffin-embedded sections from five cases of epidermolysis bullosa using the PCR amplification of specific alleles (PASA) method. In two of four...

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PMID: 7539246
DOI: 10.1007/BF01262322

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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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