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Article

Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice.

PloS one - 1 Jan 2023

Sproule Thomas J, Wilpan Robert Y, Low Benjamin E, Silva Kathleen A, Reyon Deepak, Joung J Keith, Wiles Michael V, Roopenian Derry C, Sundberg John P

Abstract excerpt

Previous work strongly implicated Collagen 17a1 (Col17a1) as a potent genetic modifier of junctional epidermolysis bullosa (JEB) caused by a hypomorphic mutation (Lamc2jeb) in mice. The importance of the noncollagenous domain (NC4) of COLXVII was suggested by use of a congenic reduction approach that restricted the modifier effect to 2-3 neighboring amino acid changes in that domain. The current study utilizes...

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Identifiers

PMID: 37796769
DOI: 10.1371/journal.pone.0292456
PMCID: PMC10553217

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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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