title: Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.
authors.forename: Sang Hee
authors.initials: SH
authors.lastname: Lee
authors.forename: Song-Ee
authors.initials: SE
authors.lastname: Kim
authors.forename: Eun Bee
authors.initials: EB
authors.lastname: Noh
authors.forename: Se-Woong
authors.initials: SW
authors.lastname: Oh
authors.forename: Soo-Chan
authors.initials: SC
authors.lastname: Kim
mesh_terms: D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII