Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence
about
TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephalyHyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.Relative expression of a dominant mutated ABCC8 allele determines the clinical manifestation of congenital hyperinsulinism.ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes.Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1.Review. SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator.Complex Genetics of Type 2 Diabetes and Effect Size: What have We Learned from Isolated Populations?Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation.
P2860
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P2860
Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence
description
2008 nî lūn-bûn
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2008年の論文
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2008年論文
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2008年論文
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2008年論文
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2008年論文
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2008年論文
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2008年论文
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2008年论文
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2008年论文
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name
Novel de novo mutation in sulf ...... diabetes in early adolescence
@ast
Novel de novo mutation in sulf ...... diabetes in early adolescence
@en
type
label
Novel de novo mutation in sulf ...... diabetes in early adolescence
@ast
Novel de novo mutation in sulf ...... diabetes in early adolescence
@en
prefLabel
Novel de novo mutation in sulf ...... diabetes in early adolescence
@ast
Novel de novo mutation in sulf ...... diabetes in early adolescence
@en
P2093
P2860
P356
P1433
P1476
Novel de novo mutation in sulf ...... diabetes in early adolescence
@en
P2093
Abdulsalam Abu-Libdeh
Avital Perry
David H Zangen
Jeremy Bushman
Maha Abdulhadi-Atwan
Sharona Tornovsky-Babaey
Show-Ling Shyng
P2860
P304
P356
10.2337/DB08-0159
P407
P577
2008-04-04T00:00:00Z