Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.

doi:10.1242/jcs.107.4.765

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

Back to search

Article

Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.

Journal of cell science - 1 Apr 1994

Chan Y M, Yu Q C, LeBlanc-Straceski J, Christiano A, Pulkkinen L, Kucherlapati R S, Uitto J, Fuchs E

Abstract excerpt

Keratins are the major structural proteins of the epidermis. Analyzing keratin gene sequences, appreciating the switch in keratin gene expression that takes place as epidermal cells commit to terminally differentiate, and elucidating how keratins assemble into 10 nm filaments, have provided the f...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Cells, Cultured
Chromosome Mapping
DNA Mutational Analysis
Epidermolysis Bullosa Simplex
Female
Humans
Intermediate Filaments
Keratinocytes
Keratins
Lod Score
Male
Molecular Sequence Data

Source

Open in PubMed

Identifiers

PMID: 7520042
DOI: 10.1242/jcs.107.4.765

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7520042-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Protein Structure, Secondary

Sequence Alignment