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Article

Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.

International journal of molecular medicine - 1 Aug 2006

Nakamura Hiroyuki, Sawamura Daisuke, Goto Maki, Nakamura Hideki, Kida Miyuki, Ariga Tadashi, Sakiyama Yukio, Tomizawa Koki, Mitsui Hiroshi, Tamaki Kunihiko, Shimizu Hiroshi

Abstract excerpt

Non-Herlitz junctional epidermolysis bullosa (nH-JEB) disease manifests with skin blistering, atrophy and tooth enamel hypoplasia. The majority of patients with nH-JEB harbor mutations in COL17A1, the gene encoding type XVII collagen. Heterozygotes with a single COL17A1 mutation, nH-JEB defect carriers, may exhibit only enamel hypoplasia. In this study, to further elucidate COL17A1 mutation phenotype/ genotype...

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PMID: 16820943

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.PMID 16820943Read ↗

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