Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.

doi:10.1046/j.1523-1747.2000.00052.x

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Article

Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.

The Journal of investigative dermatology - 1 Aug 2000

Takizawa Y, Pulkkinen L, Chao S C, Nakajima H, Nakano Y, Shimizu H, Uitto J

Abstract excerpt

Uniparental disomy denotes a situation when an individual has inherited two copies of a specific chromosome from a single parent. Uniparental disomy has been demonstrated to be involved in the pathogenesis of recessively inherited diseases in rare cases. Here we report a patient of Japanese origin with Herlitz junctional epidermolysis bullosa (OMIM no. 226700), who died at the age of 8 mo from complications of...

Topics

Base Sequence
Chromosome Aberrations
Chromosomes, Human, Pair 1
Epidermolysis Bullosa, Junctional
Fathers
Female
Humans
Infant
Molecular Sequence Data
Mutation
Pedigree

Source

Open in PubMed

Identifiers

PMID: 10951251
DOI: 10.1046/j.1523-1747.2000.00052.x

Genes

LAMC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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