The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Nature Genetics

Volumn 29, Issue 3, 2001, Pages 337-341

  Mandel, Hanna ^a   Szargel, Raymonde ^a   Labay, Valentina ^a   Elpeleg, Orly ^b   Saada, Ann ^b   Shalata, Adel ^a   Anbinder, Yefim ^a   Berkowitz, Drora ^a   Hartman, Corina ^a   Barak, Mila ^c   Eriksson, Staffan ^d   Cohen, Nadine ^a,e  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c WESTERN GALILEE HOSPITAL   (Israel)

^d SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES   (Sweden)

^e R W JOHNSON PHARMACEUTICAL RES I   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYGUANOSINE KINASE; DEOXYRIBONUCLEOTIDE; MITOCHONDRIAL DNA; THYMIDINE KINASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 2P; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA SYNTHESIS; FEMALE; GENE ACTIVITY; GENE DELETION; GENE MAPPING; GENE MUTATION; GENETIC CODE; GENETIC MARKER; HEPATIC ENCEPHALOPATHY; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; INFANT; LIVER FAILURE; MITOCHONDRIAL DNA DEPLETION SYNDROME; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; WESTERN BLOTTING;

BASE SEQUENCE; BLOTTING, SOUTHERN; BLOTTING, WESTERN; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENE EXPRESSION; HEPATOCYTES; HOMOZYGOTE; HUMANS; MALE; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POINT MUTATION; SEQUENCE ALIGNMENT; TELENCEPHALON;

EID: 0035183256     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng746     Document Type: Article

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