Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa

Journal of Investigative Dermatology

Volumn 115, Issue 2, 2000, Pages 312-316

  Takizawa, Yasuko ^a   Hiraoka, Yoshiki ^b   Takahashi, Hayato ^a   Ishiko, Akira ^a   Yasuraoka, Isamu ^c   Hashimoto, Isao ^d   Aiso, Sadakazu ^b   Nishikawa, Takeji ^a   Shimizu, Hiroshi ^e  

^a Department of Dermatology ^*  (Japan)

^b KEIO UNIVERSITY   (Japan)

^c Ushiku Hifuka Hospital   (Japan)

^d HIROSAKI UNIVERSITY   (Japan)

^e HOKKAIDO UNIVERSITY   (Japan)

Author keywords

Basement membrane; Blister; Junctional epidermolysis bullosa; Laminin 5; Splice mutation

Indexed keywords

COLLAGEN TYPE 17; KALININ; MESSENGER RNA;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; EXON; GENE DELETION; GENE EXPRESSION; GENE LOCATION; GENETIC STABILITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INTRON; MALE; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING;

EID: 0033894989     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2000.00051.x     Document Type: Article

References (21)

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