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

Annals of Neurology

Volumn 52, Issue 2, 2002, Pages 237-239

  Taanman, Jan Willem ^a   Kateeb, Ihab ^b   Muntau, Ania C ^c   Jaksch, Michaela ^d   Cohen, Nadine ^b   Mandel, Hanna ^b  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d Klinikum Schwabing   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYGUANOSINE KINASE; MITOCHONDRIAL DNA;

ARTICLE; CASE REPORT; CONSANGUINEOUS MARRIAGE; DNA DETERMINATION; ENZYME DEFECT; ETHNIC GROUP; EXON; FAMILIAL DISEASE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GERMANY; HEPATIC ENCEPHALOPATHY; HOMOZYGOSITY; HUMAN; ISRAEL; MALE; NEWBORN; NONSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; BASE SEQUENCE; CODON, NONSENSE; DNA, MITOCHONDRIAL; EXONS; GERMANY; HOMOZYGOTE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 0036329703     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10247     Document Type: Article

References (16)

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14. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
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16. Cloning and expression of human deoxyguanosine kinase cDNA