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LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
J Hum Genet. 2003;48(5):271-274. doi: 10.1007/s10038-003-0025-3. Epub 2003 Apr 3.
J Hum Genet. 2003.
PMID: 12768443
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.
Nature. 2003 May 15;423(6937):293-8. doi: 10.1038/nature01629. Epub 2003 Apr 25.
Nature. 2003.
PMID: 12714972
Free PMC article.
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