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

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.

The British journal of dermatology - 1 Jul 2017

Kim E, Harris A, Hyland V, Murrell D F

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Epidermolysis Bullosa Simplex
Share to Keratin-14
Share to Keratin-5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 27611893
DOI: 10.1111/bjd.15053

Genes

KRT14
KRT5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.PMID 27611893Read ↗

Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.Semantic proximity Read ↗

A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia.Semantic proximity Read ↗

In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.Semantic proximity Read ↗

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.Semantic proximity Read ↗

A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex.Semantic proximity Read ↗

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex.Semantic proximity Read ↗

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.Semantic proximity Read ↗

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.Semantic proximity Read ↗

Genetic lessons learned from pathogenic variants in KRT1.Semantic proximity Read ↗

Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review.Semantic proximity Read ↗

The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology.Semantic proximity Read ↗

Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5.Semantic proximity Read ↗

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