Novel and recurrent FERMT1 gene mutations in kindler syndrome

Acta Dermato-Venereologica

Volumn 91, Issue 3, 2011, Pages 267-270

  Techanukul, Tanasit ^a   Sethuraman, Gomathy ^b   Zlotogorski, Abraham ^c   Horev, Liran ^c   Macarov, Michal ^d   Trainer, Alison ^e   Fong, Kenneth ^a   Lens, Marko ^g   Medenica, Ljiljana ^a   Ramesh, Venkatesh ^f   Mcgrath, John A ^a   Lai Cheong, Joey E ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^c The Center for Genetic Diseases of the Skin and Hair   (Israel)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^e MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^f UNIVERSITY OF BELGRADE   (Serbia)

^g SAFDARJUNG HOSPITAL   (India)

Author keywords

Blistering; Epidermolysis bullosa; Kind lin 1; Poikiloder ma; Skin atrophy

Indexed keywords

FERMITIN FAMILY HOMOLOG 1; GENOMIC DNA; INTEGRIN; KIND 1 PROTEIN; KINDLIN 1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLISTER; CHILD; CHROMOSOME; CLINICAL ARTICLE; CLINICAL FEATURE; COLITIS; CONGENITAL SKIN DISEASE; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA; FEMALE; FERMT 1 GENE; GENE MUTATION; HUMAN; KINDLER SYNDROME; MALE; NONSENSE MUTATION; PHOTOSENSITIVITY; POIKILODERMA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKIN ATROPHY;

BLISTER; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA; EUROPE; GASTROINTESTINAL DISEASES; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INDIA; ISRAEL; MEMBRANE PROTEINS; MOUTH DISEASES; MUCOUS MEMBRANE; MUTATION; NEOPLASM PROTEINS; PERIODONTAL DISEASES; PHENOTYPE; PHOTOSENSITIVITY DISORDERS; SKIN; UROLOGIC DISEASES; VICTORIA;

EID: 79955719654     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.2340/00015555-1063     Document Type: Article

References (20)

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