Mary Nicol

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

Allan J. Richards, David Baguley, John R.W. Yates et al. · The American Journal of Human Genetics · 2000 · 113 citations · Full text

Medicine, Genetics, Molecular Genetics +12

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

Allan J. Richards, David Baguley, John R.W. Yates et al. · The American Journal of Human Genetics · 2000 · 34 citations

Medicine, Genetics, Molecular Genetics +13

A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia

Carolyn Tysoe, Jeff Saunders, Lisa D. White et al. · QJM · 2003 · 12 citations

Medicine, Genetics, Molecular Genetics +17