Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype.
Shimizu
H
H
Hammami-Hauasli
N
N
Hatta
N
N
Nishikawa
T
T
Bruckner-Tuderman
L
L
D002648:Child; D003094:Collagen / Q000235:genetics*; D003593:Cytoplasm / Q000378:metabolism*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D011347:Procollagen / Q000378:metabolism*; D012867:Skin / Q000378:metabolism*
D011347:Procollagen; D003094:Collagen