A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel

Genetics in Medicine

Volumn 5, Issue 6, 2003, Pages 435-439

  Whittock, Neil Vincent ^a   Sher, Carron ^b   Gold, Isaac ^c   Libman, Vitalia ^b   Reish, Orit ^b  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b TEL AVIV UNIVERSITY   (Israel)

^c ASSAF HAROFEH MEDICAL CENTER   (Israel)

Author keywords

Founder effect; Gene mutation; Generalized atrophic benign epidermolysis bullosa; Splice site; Type XVII collagen

Indexed keywords

COLLAGEN TYPE 17;

ADULT; ALOPECIA; ARTICLE; ATROPHIC SKIN DISEASE; AUTOSOMAL RECESSIVE INHERITANCE; BLISTER; CHILD; CLINICAL ARTICLE; CONSANGUINITY; DNA SPLICING; DONOR SITE; EPIDERMOLYSIS BULLOSA; FAMILIAL INCIDENCE; GENE MUTATION; GENITAL SYSTEM; HOMOZYGOSITY; HUMAN; ISRAEL; LINKAGE ANALYSIS; MOUTH MUCOSA; NEWBORN; PALESTINE; PEDIGREE ANALYSIS; SITE DIRECTED MUTAGENESIS; TRAUMATOLOGY;

AUTOANTIGENS; CARRIER PROTEINS; COLLAGEN; CONSANGUINITY; CYTOSKELETAL PROTEINS; DNA PRIMERS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; HUMANS; LINKAGE (GENETICS); MICROSATELLITE REPEATS; MUTATION; NERVE TISSUE PROTEINS; NON-FIBRILLAR COLLAGENS; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 0345329524     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000096494.61125.D8     Document Type: Article

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