Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa.

doi:10.1086/302029

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Article

Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa.

American journal of human genetics - 1 Sept 1998

Sakuntabhai A, Hammami-Hauasli N, Bodemer C, Rochat A, Prost C, Barrandon Y, de Prost Y, Lathrop M, Wojnarowska F, Bruckner-Tuderman L, Hovnanian A

Abstract excerpt

We describe two familial cases of dominant dystrophic epidermolysis bullosa (DDEB) that are heterozygous for deletions in COL7A1 that alter splicing, despite intact consensus splice-site sequences. One patient shows a 28-bp genomic deletion (6081del28) in exon 73 associated with the activation of...

Topics

Adult
Alternative Splicing
Amino Acid Sequence
Biopsy
Cells, Cultured
Child
Collagen
Consensus Sequence
Epidermolysis Bullosa Dystrophica
Exons
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genes, Dominant

Genotype

Heterozygote

Humans

Introns

Keratinocytes

Male

Source

Open in PubMed Open full text

Identifiers

PMID: 9718359
DOI: 10.1086/302029
PMCID: PMC1377417

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9718359-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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