Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy).
Brown
D M
DM
Department of Ophthalmology, University of Iowa College of Medicine, Iowa City 52242, USA.
Vandenburgh
K
K
Kimura
A E
AE
Weingeist
T A
TA
Sheffield
V C
VC
Stone
E M
EM
D001483:Base Sequence; D002357:Cartilage Diseases / Q000235:genetics*; D017931:DNA Primers; D016368:Frameshift Mutation; D006801:Humans; D008969:Molecular Sequence Data; D009216:Myopia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011347:Procollagen / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics*; D013577:Syndrome
D017931:DNA Primers; D011347:Procollagen