A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa.
MRC Clinical Research Centre, Northwick Park Hospital, Middlesex, UK.
M G
MG
Dunnill
A J
AJ
Richards
G
G
Milana
F
F
Mollica
R A
RA
Eady
F M
FM
Pope
D000595:Amino Acid Sequence; D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D017931:DNA Primers; D003094:Collagen; D004247:DNA