Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.

about

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2)Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

P2860

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P2860

Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.

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http://www.wikidata.org/entity/Q54459005

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2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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name

Clinical follow-up of two Braz ...... scription of a novel mutation.

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Clinical follow-up of two Brazilian subjects with glucokinase-MODY

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type

Item

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Clinical follow-up of two Braz ...... scription of a novel mutation.

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Clinical follow-up of two Brazilian subjects with glucokinase-MODY

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Clinical follow-up of two Braz ...... scription of a novel mutation.

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Clinical follow-up of two Brazilian subjects with glucokinase-MODY

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P1476

Clinical follow-up of two Braz ...... scription of a novel mutation.

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P2093

Ana Luiza Rolim

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André Fernandes Reis

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Antonio Roberto Chacra

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Gilberto Furuzawa

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Ilda S Kunii

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Magnus R da Silva

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Rui Monteiro de Barros Maciel

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Thais DellaManna

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P2860

Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy

Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY).

Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.

beta-cell dysfunction and failure in type 2 diabetes: potential mechanisms.

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics.

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene.

Age before stage: insulin resistance rises before the onset of puberty: a 9-year longitudinal study (EarlyBird 26).

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490-495

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scholarly article

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10.1590/S0004-27302012000800005

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2012-11-01T00:00:00Z

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23295287

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Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.

about

P2860

P2860

Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.

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