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 · 34 citations · 38 references

DOI

Concepts

References

38

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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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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A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

Y Li, D.A Lacerda, Matthew L. Warman et al. · Cell · 1995 · 378 citations · Full text

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