Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I.
Yoshida
S
S
Yamaji
Y
Y
Kuwahara
R
R
Yoshida
A
A
Hisatomi
T
T
Ueno
A
A
Ishibashi
T
T
D000328:Adult; D001483:Base Sequence; D024043:Collagen Type II / Q000235:genetics*; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D012163:Retinal Detachment / Q000235:genetics*; D013577:Syndrome
C499177:COL2A1 protein, human; D024043:Collagen Type II