(Q35194553)
Statements
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy) (English)
J Körkkö
P Ritvaniemi
L Haataja
H Kääriäinen
K I Kivirikko
D J Prockop
1 reference
1 reference