New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome

Clinical and Experimental Dermatology

Volumn 39, Issue 3, 2014, Pages 361-367

  Fuchs Telem, D ^a,b   Nousbeck, J ^a   Singer, A ^c   McGrath, J A ^d   Sarig, O ^a   Sprecher, E ^a,b  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c BARZILAI MEDICAL CENTER   (Israel)

^d KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

KINDLIN 1; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; GENOMIC DNA; FERMT1 PROTEIN, HUMAN; TUMOR PROTEIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL ASSESSMENT; CODING; CONSANGUINITY; EPIDERMOLYSIS BULLOSA; FAMILY; FEMALE; FERMT1 GENE; GENE; GENE DELETION; GENE MAPPING; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MIDDLE EAST; PHENOTYPE; POIKILODERMA; POLYMERASE CHAIN REACTION SYSTEM; PREMATURITY; PRIORITY JOURNAL; PROMOTER REGION; TRANSLATION REGULATION; BRACHYDACTYLY; CATHETERIZATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DENTAL CARIES; DISEASE SEVERITY; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN CELL; HUMAN TISSUE; KERATINOCYTE; LINKAGE ANALYSIS; NAIL DYSTROPHY; PHIMOSIS; POLYMERASE CHAIN REACTION; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN BIOPSY; SKIN FRAGILITY; SYNDACTYLY; TRANSCRIPTION INITIATION SITE; TRANSITIONAL CELL CARCINOMA; CHILD; GENETICS; PEDIGREE;

ADULT; CHILD; EPIDERMOLYSIS BULLOSA; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; NEOPLASM PROTEINS; PEDIGREE; PROMOTER REGIONS, GENETIC; SEQUENCE DELETION;

EID: 84899023513     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/ced.12222     Document Type: Article

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