Associated Papers
Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology.
Bateman JF et al.
Connective Tissue Research, 2022
Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.
Wubben TJ et al.
Ophthalmic Genetics, 2018
30130436 (PubMed )
Supplement: supplement_1.pdf
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP et al.
European Journal of Human Genetics : Ejhg, 2010
Molecular genetics of the COL2A1-related disorders.
Deng H et al.
Mutation Research. Reviews in Mutation Research, 0
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