The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

The thermal transition of a non-hydroxylated form of collagen. Evidence for a role for hydroxyproline in stabilizing the triple-helix of collagen

Richard A. Berg, Darwin J. Prockop · Biochemical and Biophysical Research Communications · 1973 · 580 citations

Life Sciences, Biochemistry, Biophysics +9

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

N N Ahmad, Leena Ala‐Kokko, Robert G. Knowlton et al. · Proceedings of the National Academy of Sciences · 1991 · 319 citations

Life Sciences, Genetics, Molecular Genetics +13

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

Leena Ala‐Kokko, Clinton T. Baldwin, Roland W. Moskowitz et al. · Proceedings of the National Academy of Sciences · 1990 · 282 citations

Medicine, Genetics, Molecular Genetics +17

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

Allan J. Richards, Annie McNinch, Howard Martin et al. · Human Mutation · 2010 · 146 citations · Full text

Medicine, Genetics, Ophthalmology +11