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, Vol. 52, No. 2, 08.2002, p. 237-9.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -