A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.
McGrory
J
J
Division of Orthopaedics, Hospital for Sick Children, Toronto, Ontario, Canada.
Costa
T
T
Cole
W G
WG
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
D003094:Collagen