Type VII collagen DNA linkage analysis in a Japanese family with dominant dystrophic epidermolysis bullosa.

doi:10.1016/0923-1811(94)90049-3

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Article

Type VII collagen DNA linkage analysis in a Japanese family with dominant dystrophic epidermolysis bullosa.

Journal of dermatological science - 1 Dec 1994

Nomura K, Nakano H, Harada K, Umeki K, Kon A, Sawamura D, Mitsuhashi Y, Hashimoto I, Uitto J

Abstract excerpt

Type VII collagen, a major component of anchoring fibrils in the basement membrane zone, is now considered to be a primary genetic factor in the pathogenesis of dominant dystrophic epidermolysis bullosa (DDEB). In this study, we performed genetic linkage analysis in a Japanese family with DDEB using a PvuII polymorphism in the type VII collagen gene. The pedigree consisted of 10 affected and 13 unaffected living...

Topics

Base Sequence
Child
Collagen
DNA
DNA Primers
Epidermolysis Bullosa Dystrophica
Female
Genes, Dominant
Genetic Linkage
Humans
Japan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lod Score

Male

Microscopy, Electron

Molecular Sequence Data

Pedigree

Phenotype

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 7865472
DOI: 10.1016/0923-1811(94)90049-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7865472-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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