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One or more keywords matched the following items that are connected to Bell, Graeme
Item TypeName
Concept Point Mutation
Academic Article Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.
Academic Article Molecular analysis of the fructose transporter gene (GLUT5) in isolated fructose malabsorption.
Academic Article Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM.
Academic Article Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM.
Academic Article Functional properties of the R154X HNF-4alpha protein generated by a mutation associated with maturity-onset diabetes of the young, type 1.
Academic Article Identification of two novel amino acid polymorphisms in beta-cell/liver (GLUT2) glucose transporter in Japanese subjects.
Academic Article Compensation in pancreatic beta-cell function in subjects with glucokinase mutations.
Academic Article 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.
Academic Article Clinical characteristics of subjects with a missense mutation in glucokinase.
Academic Article Mutations in the glucokinase gene are not a major cause of late-onset type 2 (non-insulin-dependent) diabetes mellitus in Japanese subjects.
Academic Article Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
Academic Article Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family.
Academic Article Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
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  • Point Mutation