(Q78197714)
Statements
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 (English)
Shimizu H
Hammami-Hauasli N
Nishikawa T
Bruckner-Tuderman L
1 September 1999