Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

Science

Volumn 283, Issue 5402, 1999, Pages 689-692

  Nishino, Ichizo ^a   Spinazzola, Antonella ^a   Hirano, Michio ^a  

^a Department of Neurology ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

THYMIDINE; THYMIDINE PHOSPHORYLASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 22Q; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA REPLICATION; ENCEPHALOMYOPATHY; GENE MUTATION; GENOME; HUMAN; LEUKOCYTE; MUSCLE MITOCHONDRION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SKELETAL MUSCLE;

AMINO ACID SEQUENCE; CHROMOSOMES, HUMAN, PAIR 22; DNA, MITOCHONDRIAL; EXONS; GASTROINTESTINAL MOTILITY; HUMANS; INTRONS; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NEOVASCULARIZATION, PHYSIOLOGIC; POLYMORPHISM, GENETIC; RNA SPLICING; SEQUENCE DELETION; THYMIDINE; THYMIDINE PHOSPHORYLASE;

EID: 0033613865     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.283.5402.689     Document Type: Article

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45. We thank the families for their cooperation; L. P. Rowland, J. R. Carlo, A. F. Hahn, Y. Shapira, I. Butler, A. N. Bender, L. M. Salberg, and S. Hammans for clinical samples; S. DiMauro, E. A. Schon, A. L. Andreu, and T. G. Nygaard for critical advice; and S. Tadesse for excellent technical assistance. Supported by the Columbia-Presbyterian Irving Scholars Program (M.H.); the Uehara Memorial Foundation, Tokyo (I.N.); the Consiglio Nazionale delle Ricerche, Rome (A.S.); NIH grant RO1-HL59657 (M.H.); and a Muscular Dystrophy Association grant (S. DiMauro).