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References

These sources were used to develop the Genetics Home Reference gene summary on the COL9A1 gene.

Blumbach K, Niehoff A, Paulsson M, Zaucke F. Ablation of collagen IX and COMP disrupts epiphyseal cartilage architecture. Matrix Biol. 2008 May;27(4):306-18. doi: 10.1016/j.matbio.2007.11.007. Epub 2007 Dec 3. PubMed citation
Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 2002 May;19(5):465-78. Review. PubMed citation
Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M, Carter L, Spector TD, Kolodziej L, Seppänen U, Glazar R, Królewski J, Latos-Bielenska A, Ala-Kokko L. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. Am J Hum Genet. 2001 Nov;69(5):969-80. Epub 2001 Sep 14. PubMed citation
Entrez Gene
Gene Review: Multiple Epiphyseal Dysplasia, Dominant
Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. Invest Ophthalmol Vis Sci. 2011 Jul 1;52(7):4774-9. doi: 10.1167/iovs.10-7128. PubMed citation
OMIM: COLLAGEN, TYPE IX, ALPHA-1
Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet. 2006 Sep;79(3):449-57. Epub 2006 Jun 26. PubMed citation


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