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Ascertainment-adjusted parameter estimates revisited.
Epstein MP, Lin X, Boehnke M. Epstein MP, et al. Among authors: boehnke m. Am J Hum Genet. 2002 Apr;70(4):886-95. doi: 10.1086/339517. Epub 2002 Mar 5. Am J Hum Genet. 2002. PMID: 11880949 Free PMC article.
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: boehnke m. Nature. 2003 May 15;423(6937):293-8. doi: 10.1038/nature01629. Epub 2003 Apr 25. Nature. 2003. PMID: 12714972
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