Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations

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Standard

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. / Pruhova, Stepanka; Dusatkova, Petra; Sumnik, Zdenek; Kolouskova, Stanislava; Pedersen, Oluf; Hansen, Torben; Cinek, Ondrej; Lebl, Jan.

In: Pediatric Diabetes Online, Vol. 11, No. 8, 01.12.2010, p. 529-35.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Pruhova, S, Dusatkova, P, Sumnik, Z, Kolouskova, S, Pedersen, O, Hansen, T, Cinek, O & Lebl, J 2010, 'Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations', Pediatric Diabetes Online, vol. 11, no. 8, pp. 529-35. https://doi.org/10.1111/j.1399-5448.2010.00646.x

APA

Pruhova, S., Dusatkova, P., Sumnik, Z., Kolouskova, S., Pedersen, O., Hansen, T., Cinek, O., & Lebl, J. (2010). Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. Pediatric Diabetes Online, 11(8), 529-35. https://doi.org/10.1111/j.1399-5448.2010.00646.x

Vancouver

Pruhova S, Dusatkova P, Sumnik Z, Kolouskova S, Pedersen O, Hansen T et al. Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. Pediatric Diabetes Online. 2010 Dec 1;11(8):529-35. https://doi.org/10.1111/j.1399-5448.2010.00646.x

Author

Pruhova, Stepanka ; Dusatkova, Petra ; Sumnik, Zdenek ; Kolouskova, Stanislava ; Pedersen, Oluf ; Hansen, Torben ; Cinek, Ondrej ; Lebl, Jan. / Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. In: Pediatric Diabetes Online. 2010 ; Vol. 11, No. 8. pp. 529-35.

Bibtex

@article{3f8efdb66ccf4895a5b54351860c7bcb,
title = "Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations",
abstract = "Glucokinase diabetes, also called GCK-MODY or maturity-onset diabetes of the young type 2 (MODY2), is caused by heterozygous mutations in the gene encoding glucokinase (GCK). Objective: The aim of study was to investigate the current prevalence of GCK mutations in a large cohort of Czech patients with typical clinical appearance of GCK-MODY. In addition, we reanalyzed the negative results obtained previously by screening using the denaturing high-performance liquid chromatography (dHPLC).",
keywords = "Adolescent, Child, Chromatography, High Pressure Liquid, Czech Republic, Diabetes Mellitus, Type 2, Glucokinase, Humans, Mutation, Prevalence, Protein Denaturation, Young Adult",
author = "Stepanka Pruhova and Petra Dusatkova and Zdenek Sumnik and Stanislava Kolouskova and Oluf Pedersen and Torben Hansen and Ondrej Cinek and Jan Lebl",
note = "{\textcopyright} 2010 John Wiley & Sons A/S.",
year = "2010",
month = dec,
day = "1",
doi = "10.1111/j.1399-5448.2010.00646.x",
language = "English",
volume = "11",
pages = "529--35",
journal = "Pediatric Diabetes",
issn = "1399-543X",
publisher = "Wiley-Blackwell",
number = "8",

}

RIS

TY - JOUR

T1 - Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations

AU - Pruhova, Stepanka

AU - Dusatkova, Petra

AU - Sumnik, Zdenek

AU - Kolouskova, Stanislava

AU - Pedersen, Oluf

AU - Hansen, Torben

AU - Cinek, Ondrej

AU - Lebl, Jan

N1 - © 2010 John Wiley & Sons A/S.

PY - 2010/12/1

Y1 - 2010/12/1

N2 - Glucokinase diabetes, also called GCK-MODY or maturity-onset diabetes of the young type 2 (MODY2), is caused by heterozygous mutations in the gene encoding glucokinase (GCK). Objective: The aim of study was to investigate the current prevalence of GCK mutations in a large cohort of Czech patients with typical clinical appearance of GCK-MODY. In addition, we reanalyzed the negative results obtained previously by screening using the denaturing high-performance liquid chromatography (dHPLC).

AB - Glucokinase diabetes, also called GCK-MODY or maturity-onset diabetes of the young type 2 (MODY2), is caused by heterozygous mutations in the gene encoding glucokinase (GCK). Objective: The aim of study was to investigate the current prevalence of GCK mutations in a large cohort of Czech patients with typical clinical appearance of GCK-MODY. In addition, we reanalyzed the negative results obtained previously by screening using the denaturing high-performance liquid chromatography (dHPLC).

KW - Adolescent

KW - Child

KW - Chromatography, High Pressure Liquid

KW - Czech Republic

KW - Diabetes Mellitus, Type 2

KW - Glucokinase

KW - Humans

KW - Mutation

KW - Prevalence

KW - Protein Denaturation

KW - Young Adult

U2 - 10.1111/j.1399-5448.2010.00646.x

DO - 10.1111/j.1399-5448.2010.00646.x

M3 - Journal article

C2 - 20337973

VL - 11

SP - 529

EP - 535

JO - Pediatric Diabetes

JF - Pediatric Diabetes

SN - 1399-543X

IS - 8

ER -

ID: 35312405