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Article

Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

American journal of human genetics - 1 Nov 1991

Ryynänen M, Knowlton R G, Uitto J

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin gene clusters on chromosome 12 or chromosome 17. Although these keratin gene loci are not...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 1718160
PMCID: PMC1683248

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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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Mapping of epidermolysis bullosa simplex mutation to chromosome 12.PMID 1718160Read ↗

Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.Semantic proximity Read ↗

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q.Semantic proximity Read ↗

Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis.Semantic proximity Read ↗

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.Semantic proximity Read ↗

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.Semantic proximity Read ↗

Localization of the gene for Darier disease to a 5-cM interval on chromosome 12q.Semantic proximity Read ↗

Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family.Semantic proximity Read ↗

Novel Clinical Observations Indicative of Epidermolysis Bullosa Simplex Associated With KLHL24.Semantic proximity Read ↗

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