Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency
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Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiencyCytosolic 5'-nucleotidase III (NT5C3): gene sequence variation and functional genomicsMolecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiencyPyrimidine 5' nucleotidase deficiencyA genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0.Substrate cycles and drug resistance to 1-beta-D-arabinofuranosylcytosine (araC).Genetic factors influencing pyrimidine-antagonist chemotherapy.Hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview.Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defectsA novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemiasThe PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?Human HAD phosphatases: structure, mechanism, and roles in health and disease.The genetic basis of the interaction between pyrimidine 5' nucleotidase I deficiency and hemoglobin E.(d)CMP; TMP; or (d)UMP + H2O => (deoxy)cytidine; thymidine; or (deoxy)uridine + orthophosphate (NT5C3)Mammalian 5'-nucleotidases.Structure of pyrimidine 5'-nucleotidase type 1. Insight into mechanism of action and inhibition during lead poisoning.
P2860
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P2860
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency
@ast
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency
@en
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency
@nl
type
label
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency
@ast
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency
@en
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency
@nl
prefLabel
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency
@ast
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency
@en
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency
@nl
P2093
P50
P3181
P1433
P1476
Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency
@en
P2093
A M Marinaki
E Escuredo
E H Harley
H A Simmonds
I Ben-Bassat
P304
P3181
P356
10.1182/BLOOD.V97.11.3327
P407
P577
2001-06-01T00:00:00Z