Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa

Journal of Investigative Dermatology

Volumn 109, Issue 2, 1997, Pages 246-249

  Mellerio, Jemima E ^a   Dunnill, M Giles S ^a   Allison, Waridibe ^a   Ashton, Gabrielle H S ^a   Christiano, Angela M ^b   Uitto, Jouni ^c   Eady, Robin A J ^a   McGrath, John A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Basement membrane zone; Blistering disorder; DNA based prenatal testing; Genetic skin disease

Indexed keywords

COLLAGEN TYPE 7; DNA; HETERODUPLEX; NUCLEOTIDE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; FEMALE; GENE; GENE MUTATION; HAPLOTYPE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION SITE; SKIN BIOPSY;

EID: 0030850860     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12319792     Document Type: Article

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