A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome.
Leung
L
L
Wilmer Eye Institute, Johns Hopkins Medical Institutes, Baltimore, MD 21287, USA.
Hyland
J C
JC
Young
A
A
Goldberg
M F
MF
Handa
J T
JT
D001483:Base Sequence; D002648:Child; D024043:Collagen Type II / Q000235:genetics*; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009216:Myopia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012163:Retinal Detachment / Q000235:genetics; D012167:Retinal Perforations / Q000235:genetics*; D013577:Syndrome; D041623:Tomography, Optical Coherence; D014822:Vitreous Body / Q000002:abnormalities*
C499177:COL2A1 protein, human; D024043:Collagen Type II