title: A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.
authors.affiliation: Division of Orthopaedics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: J
authors.initials: J
authors.lastname: McGrory
authors.forename: T
authors.initials: T
authors.lastname: Costa
authors.forename: W G
authors.initials: WG
authors.lastname: Cole
mesh_terms: D002478:Cells, Cultured; D003094:Collagen / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005091:Exons; D005347:Fibroblasts / Q000648:ultrastructure; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D015183:Restriction Mapping
chemical_list: D003094:Collagen