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References

These sources were used to develop the Genetics Home Reference gene summary on the MATN3 gene.

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
Entrez Gene
Fresquet M, Jackson GC, Loughlin J, Briggs MD. Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3. Hum Mutat. 2008 Feb;29(2):330. doi: 10.1002/humu.9518. PubMed citation
Fresquet M, Jowitt TA, Ylöstalo J, Coffey P, Meadows RS, Ala-Kokko L, Thornton DJ, Briggs MD. Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases. J Biol Chem. 2007 Nov 30;282(48):34634-43. Epub 2007 Sep 18. PubMed citation
Gene Review: Multiple Epiphyseal Dysplasia, Dominant
Nicolae C, Ko YP, Miosge N, Niehoff A, Studer D, Enggist L, Hunziker EB, Paulsson M, Wagener R, Aszodi A. Abnormal collagen fibrils in cartilage of matrilin-1/matrilin-3-deficient mice. J Biol Chem. 2007 Jul 27;282(30):22163-75. Epub 2007 May 14. PubMed citation
OMIM: MATRILIN 3

Reviewed: February 2008

Published: May 20, 2013