Molecular characterization of Turkish patients with pyrimidine 5′ nucleotidase-I deficiency

Blood

Volumn 102, Issue 5, 2003, Pages 1900-1903

  Balta, Gunay ^a   Gumruk, Fatma ^b   Akarsu, Nurten ^b   Gurgey, Aytemiz ^b   Altay, Cigdem ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

PYRIMIDINE 5' NUCLEOTIDE NUCLEOSIDASE; PYRIMIDINE NUCLEOTIDE; TYROSINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BASOPHIL; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CORRELATION ANALYSIS; ERYTHROCYTE; EXON; FEMALE; GENE INSERTION; GENE MUTATION; HEMOLYTIC ANEMIA; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PYRIMIDINE 5' NUCLEOTIDASE I DEFICIENCY; STOP CODON; TURKEY (REPUBLIC);

EID: 0042441134     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-02-0628     Document Type: Article

References (13)

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