Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young (Q33901163)

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30 October 2019

title

Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young (English)

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maturity-onset diabetes of the young

30 October 2019

main subject

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30 October 2019

Sun F

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30 October 2019

Knebelmann B

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30 October 2019

Pueyo ME

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30 October 2019

Zouali H

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30 October 2019

Lesage S

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30 October 2019

Vaxillaire M

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30 October 2019

Passa P

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30 October 2019

Cohen D

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30 October 2019

Velho G

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30 October 2019

language of work or name

English

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publication date

1 September 1993

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Journal of Clinical Investigation

30 October 2019

published in

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volume

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issue

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30 October 2019

page(s)

1174-1180

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Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships

30 October 2019

cites work

1 reference

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Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus

5 July 2018

1 reference

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New perspectives on pancreatic islet glucokinase

5 July 2018

1 reference

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

5 July 2018

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Effect of 5' splice site mutations on splicing of the preceding intron

5 July 2018

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Mapping genes in diabetes. Genetic epidemiological perspective

5 July 2018

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Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes

5 July 2018

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Glucokinase gene structure. Functional implications of molecular genetic studies

5 July 2018

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Exon definition may facilitate splice site selection in RNAs with multiple exons

5 July 2018

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Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome

5 July 2018

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Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients

5 July 2018

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Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus

5 July 2018

1 reference

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Point mutations in the dystrophin gene

5 July 2018

1 reference

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Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus

5 July 2018

1 reference

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Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments

5 July 2018

1 reference

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Mutations away from splice site recognition sequences might cis-modulate alternative splicing of goat alpha s1-casein transcripts. Structural organization of the relevant gene

5 July 2018

1 reference

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Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young.

5 July 2018

1 reference

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Linkage of type 2 diabetes to the glucokinase gene

5 July 2018

1 reference

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A general method for isolation of high molecular weight DNA from eukaryotes

5 July 2018

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5 July 2018

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5 July 2018

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Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus

5 July 2018

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Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease

29 October 2018

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12 December 2020

Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus

1 reference

12 December 2020

Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes

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12 December 2020

Relationship between first-phase insulin secretion and age, HLA, islet cell antibody status, and development of type I diabetes in 220 juvenile first-degree relatives of diabetic patients

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12 December 2020

Strategies for the collection of sibling-pair data for genetic studies in type 2 (non-insulin-dependent) diabetes mellitus

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12 December 2020

Identifiers

DOI

10.1172/JCI116687

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

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30 October 2019

PubMed publication ID

8376578

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8376578%20AND%20SRC:MED&resulttype=core&format=json