Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

A. Richards,D. Baguley,J. Yates,C. Lane,M. Nicol,P. Harper,J. Scott,M. Snead

Published 2000 in American Journal of Human Genetics

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