Graeme Bell to Point Mutation
This is a "connection" page, showing publications Graeme Bell has written about Point Mutation.
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Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes. 2014 May; 15(3):252-6.
Score: 0.110
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Functional properties of the R154X HNF-4alpha protein generated by a mutation associated with maturity-onset diabetes of the young, type 1. FEBS Lett. 2000 Aug 11; 479(1-2):41-5.
Score: 0.044
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Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes. 1997 Sep; 46(9):1504-8.
Score: 0.036
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Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes. 1997 Mar; 46(3):528-35.
Score: 0.035
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Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency. Genomics. 1995 Jun 10; 27(3):520-5.
Score: 0.031
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Clinical characteristics of subjects with a missense mutation in glucokinase. Diabet Med. 1995 Mar; 12(3):209-17.
Score: 0.030
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Compensation in pancreatic beta-cell function in subjects with glucokinase mutations. Diabetes. 1994 May; 43(5):718-23.
Score: 0.029
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Mutations in the glucokinase gene are not a major cause of late-onset type 2 (non-insulin-dependent) diabetes mellitus in Japanese subjects. Diabet Med. 1994 Mar; 11(2):193-7.
Score: 0.028
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Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family. Diabetologia. 1993 May; 36(5):433-7.
Score: 0.027
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Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM. Diabetologia. 1997 Apr; 40(4):473-5.
Score: 0.009
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Molecular analysis of the fructose transporter gene (GLUT5) in isolated fructose malabsorption. J Clin Invest. 1996 Nov 15; 98(10):2398-402.
Score: 0.009
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Identification of two novel amino acid polymorphisms in beta-cell/liver (GLUT2) glucose transporter in Japanese subjects. Diabetologia. 1995 Feb; 38(2):211-5.
Score: 0.008
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Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nat Genet. 1992 Oct; 2(2):153-6.
Score: 0.006