title: 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.
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
authors.forename: N
authors.initials: N
authors.lastname: Hammami-Hauasli
authors.forename: N
authors.initials: N
authors.lastname: Hatta
authors.forename: T
authors.initials: T
authors.lastname: Nishikawa
authors.forename: L
authors.initials: L
authors.lastname: Bruckner-Tuderman
mesh_terms: 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*
chemical_list: D011347:Procollagen; D003094:Collagen