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A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

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A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. / Taanman, Jan-Willem; Kateeb, Ihab; Muntau, Ania C; Jaksch, Michaela; Cohen, Nadine; Mandel, Hanna.

in: ANN NEUROL, Jahrgang 52, Nr. 2, 08.2002, S. 237-9.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Taanman, J-W, Kateeb, I, Muntau, AC, Jaksch, M, Cohen, N & Mandel, H 2002, 'A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA', ANN NEUROL, Jg. 52, Nr. 2, S. 237-9. https://doi.org/10.1002/ana.10247

APA

Taanman, J-W., Kateeb, I., Muntau, A. C., Jaksch, M., Cohen, N., & Mandel, H. (2002). A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. ANN NEUROL, 52(2), 237-9. https://doi.org/10.1002/ana.10247

Vancouver

Taanman J-W, Kateeb I, Muntau AC, Jaksch M, Cohen N, Mandel H. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. ANN NEUROL. 2002 Aug;52(2):237-9. https://doi.org/10.1002/ana.10247

Bibtex

@article{ce60d88628284203884c31f61380462a,
title = "A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA",
abstract = "Recently, a homozygous single-nucleotide deletion in exon 2 of the deoxyguanosine kinase gene (DGUOK) was identified as the disease-causing mutation in 3 apparently unrelated Israeli-Druze families with depleted hepatocerebral mitochondrial DNA. We have discovered a novel homozygous nonsense mutation in exon 3 of DGUOK (313C-->T) from a patient born to nonconsanguineous German parents. This finding shows that mutations in DGUOK causing mitochondrial DNA depletion are not confined to a single ethnic group.",
keywords = "Amino Acid Sequence/genetics, Base Sequence/genetics, Codon, Nonsense/genetics, DNA, Mitochondrial/metabolism, Exons, Germany/ethnology, Homozygote, Humans, Infant, Male, Molecular Sequence Data, Phosphotransferases (Alcohol Group Acceptor)/genetics",
author = "Jan-Willem Taanman and Ihab Kateeb and Muntau, {Ania C} and Michaela Jaksch and Nadine Cohen and Hanna Mandel",
year = "2002",
month = aug,
doi = "10.1002/ana.10247",
language = "English",
volume = "52",
pages = "237--9",
journal = "ANN NEUROL",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "2",

}

RIS

TY - JOUR

T1 - A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

AU - Taanman, Jan-Willem

AU - Kateeb, Ihab

AU - Muntau, Ania C

AU - Jaksch, Michaela

AU - Cohen, Nadine

AU - Mandel, Hanna

PY - 2002/8

Y1 - 2002/8

N2 - Recently, a homozygous single-nucleotide deletion in exon 2 of the deoxyguanosine kinase gene (DGUOK) was identified as the disease-causing mutation in 3 apparently unrelated Israeli-Druze families with depleted hepatocerebral mitochondrial DNA. We have discovered a novel homozygous nonsense mutation in exon 3 of DGUOK (313C-->T) from a patient born to nonconsanguineous German parents. This finding shows that mutations in DGUOK causing mitochondrial DNA depletion are not confined to a single ethnic group.

AB - Recently, a homozygous single-nucleotide deletion in exon 2 of the deoxyguanosine kinase gene (DGUOK) was identified as the disease-causing mutation in 3 apparently unrelated Israeli-Druze families with depleted hepatocerebral mitochondrial DNA. We have discovered a novel homozygous nonsense mutation in exon 3 of DGUOK (313C-->T) from a patient born to nonconsanguineous German parents. This finding shows that mutations in DGUOK causing mitochondrial DNA depletion are not confined to a single ethnic group.

KW - Amino Acid Sequence/genetics

KW - Base Sequence/genetics

KW - Codon, Nonsense/genetics

KW - DNA, Mitochondrial/metabolism

KW - Exons

KW - Germany/ethnology

KW - Homozygote

KW - Humans

KW - Infant

KW - Male

KW - Molecular Sequence Data

KW - Phosphotransferases (Alcohol Group Acceptor)/genetics

U2 - 10.1002/ana.10247

DO - 10.1002/ana.10247

M3 - SCORING: Journal article

C2 - 12210798

VL - 52

SP - 237

EP - 239

JO - ANN NEUROL

JF - ANN NEUROL

SN - 0364-5134

IS - 2

ER -