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Living the high life: high-altitude adaptation.
Scheinfeldt LB, Tishkoff SA. Scheinfeldt LB, et al. Genome Biol. 2010;11(9):133. doi: 10.1186/gb-2010-11-9-133. Epub 2010 Sep 10. Genome Biol. 2010. PMID: 20979669 Free PMC article.
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
Cabral WA, Barnes AM, Adeyemo A, Cushing K, Chitayat D, Porter FD, Panny SR, Gulamali-Majid F, Tishkoff SA, Rebbeck TR, Gueye SM, Bailey-Wilson JE, Brody LC, Rotimi CN, Marini JC. Cabral WA, et al. Genet Med. 2012 May;14(5):543-51. doi: 10.1038/gim.2011.44. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22281939 Free PMC article.