Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

García, M

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. [electronic resource] - The British journal of dermatology Sep 2011 - 683-92 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1365-2133

10.1111/j.1365-2133.2011.10428.x doi


Adolescent
Adult
Child, Preschool
Cohort Studies
Consanguinity
DNA Mutational Analysis
Epidermolysis Bullosa Simplex--genetics
Female
Homozygote
Humans
Infant
Keratin-14--genetics
Keratin-5--genetics
Male
Mutation, Missense--genetics
Pedigree
Spain
Young Adult