Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.

doi:10.1007/s10038-005-0290-4

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Article

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.

Journal of human genetics - 1 Jan 2005

Sawamura Daisuke, Goto Maki, Yasukawa Kana, Sato-Matsumura Kazuko, Nakamura Hideki, Ito Kei, Nakamura Hiroyuki, Tomita Yuki, Shimizu Hiroshi

Abstract excerpt

Dystrophic EB (DEB) is clinically characterized by mucocutaneous blistering in response to minor trauma, followed by scarring and nail dystrophy, and is caused by mutations in the COL7A1 gene encoding type VII collagen. DEB is inherited in either an autosomal dominant (DDEB) or recessive (RDEB) fashion. DDEB basically results from a glycine substitution mutation within the collagenous domain on one COL7A1 allele,...

Topics

Adult
Alleles
Child
Child, Preschool
Collagen Type VII
DNA Mutational Analysis
Epidermolysis Bullosa Dystrophica
Family
Female
Genes, Dominant
Genes, Recessive
Humans
Infant
Infant, Newborn
Japan
Male
Mutation

Source

Open in PubMed

Identifiers

PMID: 16189623
DOI: 10.1007/s10038-005-0290-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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