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Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Eriksson M, et al. Among authors: csoka ab. Nature. 2003 May 15;423(6937):293-8. doi: 10.1038/nature01629. Epub 2003 Apr 25. Nature. 2003. PMID: 12714972 Free PMC article.
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.
Martin DC, Atmuri V, Hemming RJ, Farley J, Mort JS, Byers S, Hombach-Klonisch S, Csoka AB, Stern R, Triggs-Raine BL. Martin DC, et al. Among authors: csoka ab. Hum Mol Genet. 2008 Jul 1;17(13):1904-15. doi: 10.1093/hmg/ddn088. Epub 2008 Mar 15. Hum Mol Genet. 2008. PMID: 18344557
53 results