Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa.
Pulkkinen
L
L
Uitto
J
J
D000293:Adolescent; D000328:Adult; D018389:Codon, Nonsense / Q000235:genetics*; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007797:Laminin / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree
D018389:Codon, Nonsense; D007797:Laminin