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Stickler syndrome : a mutation in the nonhelical 3' end of type II procollagen gene

W. Tasman, R. Knowlton, N. Ahmad, 1995 .

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

E. Zackai, D. Prockop, D. McDonald-McGinn, 1993, American journal of human genetics.

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction‐amplified genomic DNA

L. Ala‐Kokko, C. Baldwin, I. Hopkinson, 1992, Human mutation.