Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa.
Kim
Jooyoung
J
Kim
Soo-Chan
SC
Yasukawa
Kana
K
Shimizu
Hiroshi
H
D019943:Amino Acid Substitution / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics*; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005808:Genes, Recessive; D005998:Glycine / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007723:Korea; D017354:Point Mutation; D035781:Siblings
D018388:Codon, Terminator; D024143:Collagen Type VII; D005998:Glycine