Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. [electronic resource]
Producer: 20150709Description: 6432-40 p. digitalISSN:- 1460-2083
- Age of Onset
- Birth Weight
- Child
- Child, Preschool
- Diabetes Mellitus -- diagnosis
- Enzyme Assays
- Enzyme Stability
- Female
- Genotype
- Glucokinase -- genetics
- Homozygote
- Hot Temperature
- Humans
- Infant
- Infant, Newborn
- Kinetics
- Male
- Mutation, Missense
- Phenotype
- Recombinant Proteins -- genetics
- Severity of Illness Index
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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