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Article

A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries.

The British journal of dermatology - 1 Oct 2016

Mayer B, Silló P, Mazán M, Pintér D, Medvecz M, Has C, Castiglia D, Petit F, Charlesworth A, Hatvani Zs, Pamjav H, Kárpáti S

Abstract excerpt

BACKGROUND: We have encountered repeated cases of recessive lethal generalized severe (Herlitz-type) junctional epidermolysis bullosa (JEB gen sev) in infants born to Hungarian Roma parents residing in a small region of Hungary. OBJECTIVES: To identify the disease-causing mutation and to investigate the genetic background of its unique carrier group. METHODS: The LAMB3 gene was analysed in peripheral-blood...

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Source

Identifiers

PMID: 27062385
DOI: 10.1111/bjd.14646

Genes

LAMB3

Provenance

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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