Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma

European Journal of Dermatology

Volumn 14, Issue 6, 2004, Pages 375-378

  Terrinoni, Alessandro ^b   Cocuroccia, Barbara ^a   Gubinelli, Emanuela ^a   Zambruno, Giovanna ^a   Candi, Eleonora ^b   Melino, Gerry ^b   Girolomoni, Giampiero ^a  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Epidermolytic palmoplantar keratoderma; Italian patients; Keratin diseases; Keratin mutation; R162W mutation

Indexed keywords

ARGININE; KERATIN; TRYPTOPHAN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; EPIDERMOLYTIC PALMOPLANTAR KERATODERMA; FAMILY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; ITALY; KERATIN 9 GENE; KERATOSIS PALMOPLANTARIS; MALE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ITALY; KERATINS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION; PEDIGREE;

EID: 9244247673     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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