A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

Paris, Francesc; Hurtado, Cristina; Azón, Antoni; Aguado, Leyre; Vizmanos, José L

Paris, Francesc; Hurtado, Cristina; Azón, Antoni; Aguado, Leyre; Vizmanos, José L.

Affiliation

Paris F; Department of Biochemistry & Genetics, School of Sciences, University of Navarra, Pamplona, Spain.

Exp Dermatol ; 22(12): 838-9, 2013 Dec.

Article in En | MEDLINE | ID: mdl-24118415

Subject(s)

Keratin-16/genetics; Keratin-16/metabolism; Mutation; Pachyonychia Congenita/genetics; Biopsy; Computational Biology; Family Health; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Keratoderma, Palmoplantar/genetics; Male; Mutation, Missense; Pedigree; Phenotype; Spain

Key words

KRT16; PC; keratin

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pachyonychia Congenita / Keratin-16 / Mutation Type of study: Risk_factors_studies Limits: Female / Humans / Male Country/Region as subject: Europa Language: En Journal: Exp Dermatol Journal subject: DERMATOLOGIA Year: 2013 Type: Article Affiliation country: Spain

Fulltext

XML

PubMed Links

Search on Google