See Also: COL2A1(health)
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Hegg Memorial Health Center Avera Health(health)
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COL2A1 (health)
The gene responsible for the production of the alpha1(II) chain of type II collagen. Mutations in the COL2A1 gene lead to a number of different heritable skeletal disorders, including achondrogenesis type II, hypochondrogenesis, Kniest dysplasia, spondyloepimetaphyseal dysplasia of the Strudwick type, spondyloepiphyseal dysplasia congenita, and Stickler syndrome.
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