Concepedia

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, Carol Lane, Mary Nicol, Peter S. Harper, John D. Scott, Martin P. Snead

The American Journal of Human Genetics · 2000 · 113 citations · 41 references

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41

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Harry C. Dietz, Carry Cutting, Reed E. Pyeritz et al. · Nature · 1991 · 2.1K citations

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Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries.

William I. Wood, Jane Gitschier, L A Lasky et al. · Proceedings of the National Academy of Sciences · 1985 · 810 citations · Full text

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When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

Lynne E. Maquat · PubMed · 1995 · 514 citations

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Clinical and molecular genetics of Stickler syndrome

Martin P. Snead, John R.W. Yates · Journal of Medical Genetics · 1999 · 456 citations · Full text

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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

Miikka Vikkula, Edwin C.M Madman, Vincent Chi Hang Lui et al. · Cell · 1995 · 409 citations · Full text

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