Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.

Proceedings of the National Academy of Sciences of the United States of America - 20 Aug 1996

Uttam J, Hutton E, Coulombe P A, Anton-Lamprecht I, Yu Q C, Gedde-Dahl T, Fine J D, Fuchs E

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases characterized by blistering, due to mechanical stress-induced degeneration of basal epidermal cells. It is now well-established that the three major subtypes of EBS are genetic disorders of the basal epidermal keratins, keratin 5 (K5) and keratin 14 (K14). Here we show that a rare subtype, referred to as EBS with mottled...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Point Mutation

Share to Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 8799157
DOI: 10.1073/pnas.93.17.9079
PMCID: PMC38598

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.PMID 8799157Read ↗

A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.Semantic proximity Read ↗

Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.Semantic proximity Read ↗

Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.Semantic proximity Read ↗

Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.Semantic proximity Read ↗

Keratins and epidermolysis bullosa simplexSemantic proximity Read ↗

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.Semantic proximity Read ↗

Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.Semantic proximity Read ↗

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.Semantic proximity Read ↗

In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation.Semantic proximity Read ↗

Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case.Semantic proximity Read ↗

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.Semantic proximity Read ↗

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.