Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations.

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Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective.

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Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations.

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2011 nî lūn-bûn

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2011年学术文章

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Familial mild hyperglycemia as ...... tion within three generations.

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Familial mild hyperglycemia as ...... tion within three generations.

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Item

label

Familial mild hyperglycemia as ...... tion within three generations.

@en

Familial mild hyperglycemia as ...... tion within three generations.

@nl

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Familial mild hyperglycemia as ...... tion within three generations.

@en

Familial mild hyperglycemia as ...... tion within three generations.

@nl

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Familial mild hyperglycemia as ...... tion within three generations.

@en

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Aurélie Dechaume

http://www.w3.org/2001/XMLSchema#string

Lucie Gonsorcikova

http://www.w3.org/2001/XMLSchema#string

Martine Vaxillaire

http://www.w3.org/2001/XMLSchema#string

Petra Dusatkova

http://www.w3.org/2001/XMLSchema#string

Stepanka Pruhova

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P2860

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults.

Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes

ATP-sensitive potassium channelopathies: focus on insulin secretion

Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion.

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.

N-terminal transmembrane domain of the SUR controls trafficking and gating of Kir6 channel subunits.

Octameric stoichiometry of the KATP channel complex.

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266-269

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scholarly article

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10.1111/J.1399-5448.2010.00719.X

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English

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3 Pt 2

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2011-01-09T00:00:00Z

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21214702

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hyperglycemia

Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations.

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P2860

P2860

Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations.

description

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921