Human pathology

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COL11A1

Pathology

- COL11A1 germline mutations in Stickler syndrome type 1 (MIM.604841)

- functional oolymorphism in COL11A1 in susceptibility to lumbar sisc herniation. Am J Hum Genet. 2007 Dec;81(6):1271-7. PMID: 17999364

References

- Mio F, Chiba K, Hirose Y, Kawaguchi Y, Mikami Y, Oya T, Mori M, Kamata M, Matsumoto M, Ozaki K, Tanaka T, Takahashi A, Kubo T, Kimura T, Toyama Y, Ikegawa S.A Functional Polymorphism in COL11A1, Which Encodes the alpha 1 Chain of Type XI Collagen, Is Associated with Susceptibility to Lumbar Disc Herniation.Am J Hum Genet. 2007 Dec;81(6):1271-7. PMID: 17999364