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A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
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 recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, Giedion A, Eich G, Boltshauser E, Ala-Kokko L, Superti-Furga A.
Jakkula E, et al.
J Med Genet. 2003 Dec;40(12):942-8. doi: 10.1136/jmg.40.12.942.
J Med Genet. 2003.
PMID: 14684695
Free PMC article.
No abstract available.
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