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Article

Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Sept 2020

Mittwollen R, Wohlfart S, Park J, Grosch E, Has C, Hohenester E, Schneider H, Hammersen J

Abstract excerpt

BACKGROUND: A lack or dysfunction of the anchoring protein laminin-332 in the basement membrane leads to the skin blistering disorder junctional epidermolysis bullosa (JEB). The mutation c.628G>A in the gene LAMB3 encoding the laminin β3-chain is associated with generalized intermediate JEB; it may introduce an amino acid substitution (p.Glu210Lys) or disrupt splicing. OBJECTIVE: This retrospective study aimed at...

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Source

Identifiers

PMID: 32124492
DOI: 10.1111/jdv.16332

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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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