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A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.

Genetics and molecular research : GMR - 11 Mar 2013

Park J, Chae H, Kim M, Kim Y, Park I Y, Shin J C, Park Y M

Abstract excerpt

Dystrophic epidermolysis bullosa (DEB) is an inherited skin fragility disorder that presents various clinical manifestations. DEB is characterized by separation of sublamina densa tissue and abnormalities in the anchoring fibrils that result from mutations in COL7A1 and subsequent defects in type VII collagen. A 16-month-old boy was diagnosed with Hallopeau-Siemens recessive DEB on the basis of typical skin...

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PMID: 23546949
DOI: 10.4238/2013.March.11.15

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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