Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa

British Journal of Dermatology

Volumn 149, Issue 4, 2003, Pages 810-818

  Mallipeddi, R ^a   Bleck, O ^a   Mellerio, J E ^a   Ashton, G H S ^a   Eady, R A J ^a   McGrath, J A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

COL7A1; Dystrophic epidermolysis bullosa; Genetic counselling; Glycine substitution; Type VII collagen

Indexed keywords

COLLAGEN TYPE 7; GLYCINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; COL7A1 GENE; DNA SEQUENCE; DOMINANT INHERITANCE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HETERODUPLEX ANALYSIS; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

ADOLESCENT; CHILD, PRESCHOOL; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GENETIC COUNSELING; HUMANS; PEDIGREE;

EID: 0242635656     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2003.05315.x     Document Type: Article

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