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Mosaic loss of chromosome Y is associated with common variation near TCL1A.
Zhou W, Machiela MJ, Freedman ND, Rothman N, Malats N, Dagnall C, Caporaso N, Teras LT, Gaudet MM, Gapstur SM, Stevens VL, Jacobs KB, Sampson J, Albanes D, Weinstein S, Virtamo J, Berndt S, Hoover RN, Black A, Silverman D, Figueroa J, Garcia-Closas M, Real FX, Earl J, Marenne G, Rodriguez-Santiago B, Karagas M, Johnson A, Schwenn M, Wu X, Gu J, Ye Y, Hutchinson A, Tucker M, Perez-Jurado LA, Dean M, Yeager M, Chanock SJ. Zhou W, et al. Among authors: dean m. Nat Genet. 2016 May;48(5):563-8. doi: 10.1038/ng.3545. Epub 2016 Apr 11. Nat Genet. 2016. PMID: 27064253 Free PMC article.
A frame-shift mutation in the cystic fibrosis gene.
White MB, Amos J, Hsu JM, Gerrard B, Finn P, Dean M. White MB, et al. Among authors: dean m. Nature. 1990 Apr 12;344(6267):665-7. doi: 10.1038/344665a0. Nature. 1990. PMID: 1691449
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. Allikmets R, et al. Among authors: dean m. Nat Genet. 1997 Mar;15(3):236-46. doi: 10.1038/ng0397-236. Nat Genet. 1997. PMID: 9054934
1,649 results