Geno
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Mag
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Summary
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(T;T)
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0
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common in clinvar
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[PMID 17047922] Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.
[PMID 18171712] Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.
[PMID 17855560] Insulin gene mutations as a cause of permanent neonatal diabetes.
[PMID 20034] A long view of nitrogen metabolism.
[PMID 18162506] Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
[PMID 18436707] Neonatal diabetes mellitus.
[PMID 19817801] A brief perspective on insulin production.
[PMID 19952343] In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.
[PMID 20051530] Unfolding the mechanisms of disease progression in permanent neonatal diabetes.