Konu "Tıp" için Çocuk Sağlığı Enstitüsü Makale Koleksiyonu listeleme
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Molecular Characterization Of Turkish Patients With Pyrimidine 5 ' Nucleotidase-I Deficiency
(Amer Soc Hematology, 2003)Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within ...