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The T allele of a single-nucleotide polymorphism 13.9 kb upstream of the lactase gene (LCT) (C-13.9kbT) does not predict or cause the lactase-persistence phenotype in Africans.
Am J Hum Genet. 2004 Jun;74(6):1102-10. doi: 10.1086/421050. Epub 2004 Apr 20.
Am J Hum Genet. 2004.
PMID: 15106124
Free PMC article.
A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?
Ingram CJ, Elamin MF, Mulcare CA, Weale ME, Tarekegn A, Raga TO, Bekele E, Elamin FM, Thomas MG, Bradman N, Swallow DM.
Ingram CJ, et al. Among authors: mulcare ca.
Hum Genet. 2007 Feb;120(6):779-88. doi: 10.1007/s00439-006-0291-1. Epub 2006 Nov 21.
Hum Genet. 2007.
PMID: 17120047
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Lactose digestion and the evolutionary genetics of lactase persistence.
Ingram CJ, Mulcare CA, Itan Y, Thomas MG, Swallow DM.
Ingram CJ, et al. Among authors: mulcare ca.
Hum Genet. 2009 Jan;124(6):579-91. doi: 10.1007/s00439-008-0593-6. Epub 2008 Nov 26.
Hum Genet. 2009.
PMID: 19034520
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The causal element for the lactase persistence/non-persistence polymorphism is located in a 1 Mb region of linkage disequilibrium in Europeans.
Poulter M, Hollox E, Harvey CB, Mulcare C, Peuhkuri K, Kajander K, Sarner M, Korpela R, Swallow DM.
Poulter M, et al.
Ann Hum Genet. 2003 Jul;67(Pt 4):298-311. doi: 10.1046/j.1469-1809.2003.00048.x.
Ann Hum Genet. 2003.
PMID: 12914565
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