De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed (Q46814521)

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English	De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed	scientific article

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instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

title

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed (English)

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Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

author

Ondrej Cinek

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3

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Europe PubMed Central

PubMed publication ID

24323243

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25 December 2017

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http://europepmc.org/abstract/MED/24323243

Jan Lebl

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11

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Europe PubMed Central

PubMed publication ID

24323243

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25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

Martina Skopkova

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Martina Skopkova

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6

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Petra Dusatkova

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2

object named as

Petra Dusatkova

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

author name string

Juraj Stanik

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1

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Europe PubMed Central

PubMed publication ID

24323243

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25 December 2017

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http://europepmc.org/abstract/MED/24323243

Lucia Valentinova

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4

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stated in

Europe PubMed Central

PubMed publication ID

24323243

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25 December 2017

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http://europepmc.org/abstract/MED/24323243

Miroslava Huckova

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5

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Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

Lenka Dusatkova

series ordinal

7

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stated in

Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

Daniela Stanikova

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

Mikulas Pura

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9

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Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

Iwar Klimes

series ordinal

10

1 reference

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Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

Daniela Gasperikova

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12

1 reference

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Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

Stepanka Pruhova

series ordinal

13

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Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

language of work or name

English

0 references

publication date

10 December 2013

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Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

published in

Diabetologia

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Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

volume

57

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

issue

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

page(s)

480-484

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Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

cites work

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00125-013-3119-2

retrieved

21 January 2018

The diagnosis and management of monogenic diabetes in children and adolescents

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00125-013-3119-2

retrieved

21 January 2018

Novel mutations and a mutational hotspot in the MODY3 gene

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00125-013-3119-2

retrieved

21 January 2018

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00125-013-3119-2

retrieved

21 January 2018

Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00125-013-3119-2

retrieved

21 January 2018

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00125-013-3119-2

retrieved

21 January 2018

Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00125-013-3119-2

retrieved

21 January 2018

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00125-013-3119-2

retrieved

21 January 2018

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00125-013-3119-2

retrieved

21 January 2018

A new de novo mutation in the GCK gene causing MODY2

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24323243

retrieved

12 December 2020

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Identifiers

DOI

10.1007/S00125-013-3119-2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

PubMed publication ID

24323243

1 reference

stated in

Europe PubMed Central

PubMed publication ID

24323243

retrieved

25 December 2017

reference URL

http://europepmc.org/abstract/MED/24323243

 

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