A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.

doi:10.1093/hmg/7.7.1143

Back to search

Article

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.

Human molecular genetics - 1 Jul 1998

Smith F J, Jonkman M F, van Goor H, Coleman C M, Covello S P, Uitto J, McLean W H

Abstract excerpt

Type I and type II keratins form the heteropolymeric intermediate filament cytoskeleton, which is the main stress-bearing structure within epithelial cells. Pachyonychia congenita (PC) is a group of autosomal dominant disorders whose most prominent phenotype is hypertrophic nail dystrophy accompa...

Topics

Female
Gene Expression
Genetic Linkage
Genotype
Humans
Keratins
Male
Mutation, Missense
Nail Diseases
Pedigree
Phenotype
Skin Diseases

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.