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Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3)
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of outstanding interest. This paper defines a new set of molecules involved in Type II diabetes characterised in families with maturity-onset diabetes of the young (MODY). The hepatocyte nuclear factor 1α gene product is involved in regulation of the transcription of a large number of genes, but its role in creating a diabetes phenotype is unclear.
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Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, et al. Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3). of outstanding interest Nature. 384:1996;455-458 This paper defines a new set of molecules involved in Type II diabetes characterised in families with maturity-onset diabetes of the young (MODY). The hepatocyte nuclear factor 1α gene product is involved in regulation of the transcription of a large number of genes, but its role in creating a diabetes phenotype is unclear.
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Yamagata, K.1
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Vaxillaire, M.6
Southam, L.7
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Boriraj, V.V.10
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2
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10544236911
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Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1)
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Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI. Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1). Nature. 384:1996;458-460.
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Yamagata, K.1
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Cox, N.J.6
Fajans, S.S.7
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0032006573
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A missense mutation in hepatocyte nuclear factor-4α, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus
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Hani EH, Suaud L, Boutin P, Chevre JC, Durand E, Philippi A, Demenais F, Vionnet N, Furuta H, Velho G, et al. A missense mutation in hepatocyte nuclear factor-4α, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus. J Clin Invest. 101:1998;521-526.
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Hani, E.H.1
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Demenais, F.7
Vionnet, N.8
Furuta, H.9
Velho, G.10
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4
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18144452590
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Defective insulin secretion in hepatocyte nuclear factor 1α-deficient mice
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Pontoglio M, Sreenan S, Roe M, Pugh W, Ostrega D, Doyen A, Pick AJ, Baldwin A, Velho G, Froguel P, et al. Defective insulin secretion in hepatocyte nuclear factor 1α-deficient mice. J Clin Invest. 101:1998;2215-2222.
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Froguel, P.10
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5
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17344374393
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Association of the INS VNTR with size at birth
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of outstanding interest. Birth size has previously been associated with an increased risk of Type II diabetes. Dunger have looked at sequences thought to be responsible for the regulation of the insulin gene on chromosome 11 and shown that these correlate with birth size and so may potentially contribute to susceptibility to diabetes.
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Dunger DB, Ong KKL, Huxtable SJ, Sherriff A, Woods KA, Ahmed ML, Golding J, Pembrey ME, Ring S. Association of the INS VNTR with size at birth. of outstanding interest Nat Genet. 19:1998;98-100 Birth size has previously been associated with an increased risk of Type II diabetes. Dunger have looked at sequences thought to be responsible for the regulation of the insulin gene on chromosome 11 and shown that these correlate with birth size and so may potentially contribute to susceptibility to diabetes.
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Dunger, D.B.1
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Ahmed, M.L.6
Golding, J.7
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Ring, S.9
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6
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0031859976
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Mutations in the glucokinase gene of the fetus result in reduced birth weight
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of outstanding interest. Glucokinase mutations can produce Type II diabetes in MODY families. This paper established that glucokinase mutations in the fetus can result in reduced birth weight. This suggests that genetic factors controlling insulin secretion may be important determinants of fetal size.
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Hattersley AT, Beards F, Ballantyne E, Appleton M, Harvey R, Ellard S. Mutations in the glucokinase gene of the fetus result in reduced birth weight. of outstanding interest Nat Genet. 19:1998;168-270 Glucokinase mutations can produce Type II diabetes in MODY families. This paper established that glucokinase mutations in the fetus can result in reduced birth weight. This suggests that genetic factors controlling insulin secretion may be important determinants of fetal size.
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Quantitative trait loci for cellular defects in glucose and fatty acid metabolism in hypertensive rats
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Chromosomal mapping of genetic loci associated with non-insulin dependent diabetes in the GK rat
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Gaugier D, Froguel P, Parent V, Bernard C, Bihoreau MT, Portha B, James MR, Penicaud L, Lathrop M, Ktorza A. Chromosomal mapping of genetic loci associated with non-insulin dependent diabetes in the GK rat. Nat Genet. 12:1996;38-43.
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Identification of an obesity quantitative trait locus on mouse chromosome 2 and evidence of linkage to body fat and insulin on the human homologous region 20q
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Lembertas AV, Perusse L, Chagnon YC, Fisler JS, Warden CH, Purcell-Huynh DA, Dionne FT, Gagnon J, Nadeau A, Lusis AJ, Bouchard C. Identification of an obesity quantitative trait locus on mouse chromosome 2 and evidence of linkage to body fat and insulin on the human homologous region 20q. J Clin Invest. 100:1997;1240-1247.
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Phenotypes of mouse diabetes and rat fatty due to mutations in the OB (leptin) receptor
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Phenotype of the obese Koletsky (f) rat due to Tyr763stop mutation in the extracellular domain of the leptin receptor (Lpr). Evidence for devicient plasma-to-CSF transport of leptin in both the Zucker and Koletsky obese rat
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of special interest. Leptin deficiency in humans is rare but is responsible for early onset obesity described in this paper. This provides evidence that leptin is a regulator of energy balance in humans.
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Montague CT, Farooqi S, Whitehead JP, Soos M, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, et al. Congenital leptin deficiency is associated with severe early-onset obesity in humans. of special interest Nature. 387:1997;903-908 Leptin deficiency in humans is rare but is responsible for early onset obesity described in this paper. This provides evidence that leptin is a regulator of energy balance in humans.
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Montague, C.T.1
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Hurst, J.A.10
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15
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15844372440
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Identification and characterization of the mouse obesity gene tubby: A member of a novel gene family
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Kleyn PW, Fan W, Kovats SG, Lee JJ, Pulido JC, Wu Y, Berkemeier LR, Misumi DJ, Holmgren L, Charlat O, et al. Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. Cell. 85:1996;281-290.
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0029040210
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Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity
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Naggert JK, Fricker LD, Varlamov O, Nishina PM, Rouille Y, Steiner DF, Carroll RJ, Paigen BJ, Leiter EH. Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity. Nat Genet. 10:1995;135-142.
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Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene
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of special interest. This paper describes a novel mechanism for human obesity resulting from a mutation in a prohormone convertase gene. This defect results in the failure to convert prohormones to their active products and may represent a general mechanism for ability.
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Jackson RS, Creemers JWM, Ohagi S, Raffin-Sanson M-L, Sanders L, Montague CT, Hutton JC, O'Rahilly S. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. of special interest Nat Genet. 16:1997;303-306 This paper describes a novel mechanism for human obesity resulting from a mutation in a prohormone convertase gene. This defect results in the failure to convert prohormones to their active products and may represent a general mechanism for ability.
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Mapping of a susceptibility locus for Crohn's disease on chromosome 16
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Linkage and association between inflammatory bowel disease and a locus on chromosome 12
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of special interest. Following the description of multiple linkages in inflammatory bowel disease, this paper confirms the presence of linkage on human chromosome 12 with inflammatory bowel disease and establishes evidence of an association with markers in this region.
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Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q and 4q: Evidence for epistasis between 1p and IBD1
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A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus
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A search for type I diabetes susceptibility genes in families from the United Kingdom
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of special interest. The precise contribution of BRCA1 mutations to the risk of breast cancer has been biased by its evaluation in high risk families. This study attempts to evaluate the contribution of BRCA1 mutations in a population of Ashkenazi Jews. In this group, several founder mutations are associated with a much lower risk of breast cancer than previously demonstrated.
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Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin A, McAdams M, Timmerman MM, Brody LC, Tucker MA. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. of special interest New Engl J Med. 336:1997;1401-1408 The precise contribution of BRCA1 mutations to the risk of breast cancer has been biased by its evaluation in high risk families. This study attempts to evaluate the contribution of BRCA1 mutations in a population of Ashkenazi Jews. In this group, several founder mutations are associated with a much lower risk of breast cancer than previously demonstrated.
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New Engl J Med
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Struewing, J.P.1
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McAdams, M.6
Timmerman, M.M.7
Brody, L.C.8
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37
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Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer
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Krainer M, Silva-Arrieta S, FitzGerald MG, Shimada A, Ishioka C, Kanamaru R, MacDonald DJ, Unsal H, Finkelstein DM, Bowcock A, et al. Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. New Engl J Med. 20:1997;1416-1421.
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New Engl J Med
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Krainer, M.1
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MacDonald, D.J.7
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BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer
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Couch FJ, DeShano ML, Blackwood A, Calzone K, Stopper J, Campeau L, Ganguly A, Rebbeck T, Weber BL. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. New Engl J Med. 20:1997;1409-1415.
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Couch, F.J.1
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Weber, B.L.9
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Athma P, Rappaport R, Swift M. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet. 92:1996;130-134.
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Heterozygous ATM mutations do not contribute to early onset of breast cancer
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FitzGerald MG, Bean JM, Hedge SR, Unsal H, MacDonald DJ, Harkin DP, Finkelstein DM, Isselbacher KJ, Haber DA. Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet. 15:1997;307-310.
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Fitzgerald, M.G.1
Bean, J.M.2
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Unsal, H.4
MacDonald, D.J.5
Harkin, D.P.6
Finkelstein, D.M.7
Isselbacher, K.J.8
Haber, D.A.9
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41
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0030901262
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The use and interpretation of commercial APC gene testing for familial adenomatous polyposis
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Giardiello FM, Brensinger JD, Petersen GM, Luce MC, Hylind LM, Bacon JA, Booker SV, Parker RD, Hamilton SR. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. New Engl J Med. 336:1997;823-827.
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Bacon, J.A.6
Booker, S.V.7
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Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
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Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomaki P, Chadwick RB, Kaarianen H, Eskelinen M, Jarvinen H, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. New Engl J Med. 21:1998;1481-1487.
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Aaltonen, L.A.1
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Hemminki, A.5
Peltomaki, P.6
Chadwick, R.B.7
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Jarvinen, H.10
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43
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2-adrenoceptor polymorphism and susceptibility to bronchodilator desensitisation in moderately severe stable asthmatics. Lancet. 350:1997;995-999.
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The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis
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of special interest. Polymorphisms of the CETP gene define patient populations that have different rates of progression of their coronary artery disease. In one subgroup, the effect of HMG-CoA reductase inhibition is not evident. This may indicate a difference in the therapeutic effect of these drugs based on genetics.
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Kuivenhoven JA, Jukema JW, Zwinderman AH, de Knijff P, McPherson R, Bruschke AVG, Lie KI, Kastelein JP. The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. of special interest New Engl J Med. 338:1998;86-93 Polymorphisms of the CETP gene define patient populations that have different rates of progression of their coronary artery disease. In one subgroup, the effect of HMG-CoA reductase inhibition is not evident. This may indicate a difference in the therapeutic effect of these drugs based on genetics.
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New Engl J Med
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Kuivenhoven, J.A.1
Jukema, J.W.2
Zwinderman, A.H.3
De Knijff, P.4
McPherson, R.5
Bruschke, A.V.G.6
Lie, K.I.7
Kastelein, J.P.8
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A.G. Motulsky, M. Bobrow, P.S. Harper, Scriver C. Oxford: Oxford University Press
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Weber WW. Motulsky AG, Bobrow M, Harper PS, Scriver C. Pharmacogenetics. 1997;Oxford University Press, Oxford.
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Variations on a theme: Cataloging human DNA sequence variation
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Collins FS, Guyer MS, Charkravarti A. Variations on a theme: cataloging human DNA sequence variation. Science. 278:1997;1580-1581.
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Collins, F.S.1
Guyer, M.S.2
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The use of a genetic map of biallelic markers in linkage studies
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Kruglyak L. The use of a genetic map of biallelic markers in linkage studies. Nat Genet. 17:1997;21-24.
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Nat Genet
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Zhao LP, Aragaki C, Hse L, Quiaoit F. Mapping of complex traits by single-nucleotide polymorphisms. Am J Hum Genet. 63:1998;225-240.
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Am J Hum Genet
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Zhao, L.P.1
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Hse, L.3
Quiaoit, F.4
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50
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17344364213
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DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene
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of outstanding interest. This important paper defines the extent of polymorphism in the lipoprotein lipase gene. The extensive polymorphism seen within this gene indicates how difficult it may be to define functional variants.
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Nickerson DA, Taylor SL, Weiss KM, Clark AG, Hutchinson RG, Stengard J, Salomaa V, Vartianinen E, Boerwinkle E, Sing CF. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. of outstanding interest Nat Genet. 19:1998;233-240 This important paper defines the extent of polymorphism in the lipoprotein lipase gene. The extensive polymorphism seen within this gene indicates how difficult it may be to define functional variants.
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(1998)
Nat Genet
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Nickerson, D.A.1
Taylor, S.L.2
Weiss, K.M.3
Clark, A.G.4
Hutchinson, R.G.5
Stengard, J.6
Salomaa, V.7
Vartianinen, E.8
Boerwinkle, E.9
Sing, C.F.10
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51
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0032231888
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Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase
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of special interest. This is the extensive linkage disequilibrium study of the markers generated in [50]. It has important implications for our understanding of the extent of linkage disequilibrium within a large gene with multiple polymorphisms.
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Clark AG, Weiss KM, Nickerson DA, Taylor SL, Buchanan A, Stengard J, Salomaa V, Vartianinen E, Perola M, Boerwinkle E, Sing C. Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. of special interest Am J Hum Genet. 63:1998;595-612 This is the extensive linkage disequilibrium study of the markers generated in [50]. It has important implications for our understanding of the extent of linkage disequilibrium within a large gene with multiple polymorphisms.
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(1998)
Am J Hum Genet
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Clark, A.G.1
Weiss, K.M.2
Nickerson, D.A.3
Taylor, S.L.4
Buchanan, A.5
Stengard, J.6
Salomaa, V.7
Vartianinen, E.8
Perola, M.9
Boerwinkle, E.10
Sing, C.11
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52
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Darvasi A. Experimental strategies for the genetic dissection of complex traits in animal models. Nat Genet. 18:1998;19-24.
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Nat Genet
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Darvasi, A.1
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