Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency

Clinical and Experimental Dermatology

Volumn 28, Issue 1, 2003, Pages 80-84

  Horev, L ^a   Waran Lalin, T ^c   Martinez Mir, A ^c   Bagheri, B A ^c   Tadin Strapps, M ^c   Schneiderman, P I ^c   Grossman, M E ^c   Bickers, D R ^c   Christiano, Angela M ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b New York Presbyterian Columbia University Medical Center   (United States)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AORTA VALVE; AORTA VALVE REGURGITATION; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE ASSOCIATION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE DUPLICATION; GENE MUTATION; GENETIC IDENTIFICATION; HUMAN; MALE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RNA SPLICING;

ADULT; AORTIC VALVE INSUFFICIENCY; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENES, RECESSIVE; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 0037272471     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2230.2003.01190.x     Document Type: Article

References (16)

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