Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.
Masunaga
T
T
Shimizu
H
H
Takizawa
Y
Y
Uitto
J
J
Nishikawa
T
T
D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D002648:Child; D003062:Codon / Q000235:genetics; D003094:Collagen / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005808:Genes, Recessive; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation
D003062:Codon; D003094:Collagen; D005998:Glycine