A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa

Clinical and Experimental Dermatology

Volumn 24, Issue 1, 1999, Pages 37-39

  Mohammedi, R ^b   Mellerio, J E ^b   Ashton, G H S ^b   Eady, R A J ^b   McGrath, J A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; HETERODUPLEX;

ALLELE; ARTICLE; CLINICAL ARTICLE; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; STOP CODON; UNITED KINGDOM;

COLLAGEN; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; HUMANS; MUTATION;

EID: 0032908723     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2230.1999.00404.x     Document Type: Article

References (10)

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9. Mellerio JE, Dunnill MGS, Allison W et al. Recurrent mutations in the type VII collagen gene (COL7AI) in patients with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1997; 109: 246-9.
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