Condition: Epidermolysis bullosa, pretibial
rs121912831
in
COL7A1
gene and
Epidermolysis bullosa, pretibial
PMID 8541842
1995 Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.