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Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
Am J Hum Genet. 2000 Feb;66(2):368-77. doi: 10.1086/302750.
Am J Hum Genet. 2000.
PMID: 10677296
Free PMC article.
Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.
Melkoniemi M, Koillinen H, Männikkö M, Warman ML, Pihlajamaa T, Kääriäinen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, Krakow D, Cohn DH, Kere J, Ala-Kokko L.
Melkoniemi M, et al.
Eur J Hum Genet. 2003 Mar;11(3):265-70. doi: 10.1038/sj.ejhg.5200950.
Eur J Hum Genet. 2003.
PMID: 12673280
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The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.
Jakkula E, Melkoniemi M, Kiviranta I, Lohiniva J, Räinä SS, Perälä M, Warman ML, Ahonen K, Kröger H, Göring HH, Ala-Kokko L.
Jakkula E, et al. Among authors: melkoniemi m.
Osteoarthritis Cartilage. 2005 Jun;13(6):497-507. doi: 10.1016/j.joca.2005.02.005.
Osteoarthritis Cartilage. 2005.
PMID: 15922184
Free article.
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Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes.
Välkkilä M, Melkoniemi M, Kvist L, Kuivaniemi H, Tromp G, Ala-Kokko L.
Välkkilä M, et al. Among authors: melkoniemi m.
Matrix Biol. 2001 Sep;20(5-6):357-66. doi: 10.1016/s0945-053x(01)00145-7.
Matrix Biol. 2001.
PMID: 11566270
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