Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Mäkitie O, Cole WG, Wright MJ, Smithson SF, Suri M, Rogala P, Mortier GR, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs MD.
Jackson GC, et al. Among authors: rogala p.
J Med Genet. 2004 Jan;41(1):52-9. doi: 10.1136/jmg.2003.011429.
J Med Genet. 2004.
PMID: 14729835
Free PMC article.
No abstract available.