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

Jooyoung Kim; Soo-Chan Kim; Hiroshi Shimizu; Kana Yasukawa

doi:10.1016/j.jdermsci.2003.08.007

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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

Authors: Jooyoung Kim ; Soo-Chan Kim ; Hiroshi Shimizu ; Kana Yasukawa

Citation: JOURNAL OF DERMATOLOGICAL SCIENCE, Vol.33(3) : 180-183, 2003

Journal Title: JOURNAL OF DERMATOLOGICAL SCIENCE

ISSN: 0923-1811

Issue Date: 2003

MeSH: Amino Acid Substitution/genetics* ; Asian Continental Ancestry Group/genetics ; Codon, Terminator/genetics* ; Collagen Type VII/genetics* ; Epidermolysis Bullosa Dystrophica/genetics* ; Genes, Recessive* ; Glycine/genetics* ; Heterozygote ; Humans ; Korea ; Point Mutation* ; Siblings