OMIM/177170[Secondary Source ID] - Search Results

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Year	Number of Results
2001	2
2005	1
2025	0

Page 1

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.

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. Czarny-Ratajczak M, et al. Am J Hum Genet. 2001 Nov;69(5):969-80. doi: 10.1086/324023. Epub 2001 Sep 14. Am J Hum Genet. 2001. PMID: 11565064 Free PMC article.

A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.

Seki S, Kawaguchi Y, Chiba K, Mikami Y, Kizawa H, Oya T, Mio F, Mori M, Miyamoto Y, Masuda I, Tsunoda T, Kamata M, Kubo T, Toyama Y, Kimura T, Nakamura Y, Ikegawa S. Seki S, et al. Nat Genet. 2005 Jun;37(6):607-12. doi: 10.1038/ng1557. Epub 2005 May 1. Nat Genet. 2005. PMID: 15864306

Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.

Mabuchi A, Haga N, Ikeda T, Manabe N, Ohashi H, Takatori Y, Nakamura K, Ikegawa S. Mabuchi A, et al. Am J Med Genet. 2001 Nov 22;104(2):135-9. doi: 10.1002/ajmg.10067. Am J Med Genet. 2001. PMID: 11746044

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