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Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis.
Gene. 2012 Oct 1;507(1):79-84. doi: 10.1016/j.gene.2012.06.020. Epub 2012 Jun 23.
Gene. 2012.
PMID: 22735619
Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.
Bown MJ, Jones GT, Harrison SC, Wright BJ, Bumpstead S, Baas AF, Gretarsdottir S, Badger SA, Bradley DT, Burnand K, Child AH, Clough RE, Cockerill G, Hafez H, Scott DJ, Futers S, Johnson A, Sohrabi S, Smith A, Thompson MM, van Bockxmeer FM, Waltham M, Matthiasson SE, Thorleifsson G, Thorsteinsdottir U, Blankensteijn JD, Teijink JA, Wijmenga C, de Graaf J, Kiemeney LA, Assimes TL, McPherson R; CARDIoGRAM Consortium; Global BPgen Consortium; DIAGRAM Consortium; VRCNZ Consortium; Folkersen L, Franco-Cereceda A, Palmen J, Smith AJ, Sylvius N, Wild JB, Refstrup M, Edkins S, Gwilliam R, Hunt SE, Potter S, Lindholt JS, Frikke-Schmidt R, Tybjærg-Hansen A, Hughes AE, Golledge J, Norman PE, van Rij A, Powell JT, Eriksson P, Stefansson K, Thompson JR, Humphries SE, Sayers RD, Deloukas P, Samani NJ.
Bown MJ, et al. Among authors: refstrup m.
Am J Hum Genet. 2011 Nov 11;89(5):619-27. doi: 10.1016/j.ajhg.2011.10.002. Epub 2011 Nov 4.
Am J Hum Genet. 2011.
PMID: 22055160
Free PMC article.
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