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Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.
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Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. Mol Vis. 2013; 19:759-66.
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PubMed
subject areas
Adolescent
Adolescent
Adult
Adult
Aged
Aged
Arthritis
Arthritis
Base Sequence
Base Sequence
Collagen Type II
Collagen Type II
Connective Tissue Diseases
Connective Tissue Diseases
DNA Mutational Analysis
DNA Mutational Analysis
DNA, Complementary
DNA, Complementary
Family
Family
Female
Female
Gene Expression Regulation
Gene Expression Regulation
Hearing Loss, Sensorineural
Hearing Loss, Sensorineural
Humans
Humans
Male
Male
Molecular Sequence Data
Molecular Sequence Data
Mutation
Mutation
Pedigree
Pedigree
Phenotype
Phenotype
Protein Isoforms
Protein Isoforms
Retinal Degeneration
Retinal Degeneration
Retinal Detachment
Retinal Detachment
Versicans
Versicans
authors with profiles
Tammy L Yanovitch