Khanh-Nhat Tran-Viet Vincent Soler Valencia Quiette Caldwell Powell Tammy Yanovitch Ravikanth Metlapally Xiaoyan Luo Nicholas Katsanis Erica Nading Terri L Young
Mol Vis
2013 Apr 5;19:759-66.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23592912/
Arthritis / genetics Collagen Type II / genetics Connective Tissue Diseases / genetics Hearing Loss, Sensorineural / genetics Mutation / genetics Retinal Degeneration / genetics Retinal Detachment / genetics
Arthritis / genetics Collagen Type II / genetics Connective Tissue Diseases / genetics Hearing Loss, Sensorineural / genetics Mutation / genetics Retinal Degeneration / genetics Retinal Detachment / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adolescent Adult Aged Base Sequence Collagen Type II / metabolism DNA Mutational Analysis DNA, Complementary / genetics Family Female Gene Expression Regulation Humans Male Molecular Sequence Data Pedigree Phenotype Protein Isoforms / genetics Protein Isoforms / metabolism Versicans / deficiency COL2A1 protein, human Collagen Type II DNA, Complementary Protein Isoforms Versicans Hyaloideoretinal degeneration of Wagner Stickler syndrome, type 1
PMC3626300
23592912
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes
2013