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#