Molecular basis of Japanese variants of pyrimidine 5′-nucleotidase deficiency

British Journal of Haematology

Volumn 126, Issue 2, 2004, Pages 265-271

  Kanno, Hitoshi ^a   Takizawa, Takenori ^b   Miwa, Shiro ^c   Fujii, Hisaichi ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^c Okinaka Memorial Institute for Medical Research   (Japan)

Author keywords

Alternative splicing; Erythroenzymopathy; Haemolytic anaemia; Proteasome; Proteolysis

Indexed keywords

CYTIDINE PHOSPHATE; GLYCINE; MESSENGER RNA; PYRIMIDINE 5' NUCLEOTIDE NUCLEOSIDASE;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; ENZYME BINDING; ENZYME DEFICIENCY; ENZYME MECHANISM; ENZYME SUBSTRATE; EXON; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HAPLOTYPE; HEMOLYTIC ANEMIA; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; MISSENSE MUTATION; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETICULOCYTE;

5'-NUCLEOTIDASE; ADOLESCENT; ADULT; ALTERNATIVE SPLICING; ANEMIA, HEMOLYTIC; ANIMALS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COS CELLS; DNA MUTATIONAL ANALYSIS; ERYTHROCYTES; FEMALE; HUMANS; JAPAN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PYRIMIDINE NUCLEOTIDES;

EID: 3242731153     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.05029.x     Document Type: Article

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