Associated Papers
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.
Zhang B et al.
Clinical Genetics, 2020
Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.
Wang DD et al.
Bmc Medical Genetics, 2020
32039712 (PubMed )
Supplement: 12881_2020_963_MOESM1_ESM.xlsx › Sheet1
A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family.
Ma K et al.
Molecular Genetics & Genomic Medicine, 2019
31215171 (PubMed )
Supplement: MGG3-7-e825-s001.docx
Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.
Richards AJ et al.
Human Mutation, 2007
A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.
Richards AJ et al.
Investigative Ophthalmology & Visual Science, 2005
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