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The glycine allele of a glycine/arginine polymorphism in the beta2-adrenergic receptor gene is associated with essential hypertension in a population of Chinese origin.
Ranade K, Shue WH, Hung YJ, Hsuing CA, Chiang FT, Pesich R, Hebert J, Olivier M, Chen YD, Pratt R, Olshen R, Curb D, Botstein D, Risch N, Cox DR. Ranade K, et al. Among authors: risch n. Am J Hypertens. 2001 Dec;14(12):1196-200. doi: 10.1016/s0895-7061(01)02213-0. Am J Hypertens. 2001. PMID: 11775126
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK. Feder JN, et al. Among authors: risch nj. Nat Genet. 1996 Aug;13(4):399-408. doi: 10.1038/ng0896-399. Nat Genet. 1996. PMID: 8696333
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO. Ozelius LJ, et al. Among authors: risch nj. Nat Genet. 1997 Sep;17(1):40-8. doi: 10.1038/ng0997-40. Nat Genet. 1997. PMID: 9288096
378 results