Purine nucleoside phosphorylase deficiency. Evidence for molecular heterogeneity in two families with enzyme-deficient members.
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Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiencyA rat model of purine nucleoside phosphorylase deficiencyThe metabolism of deoxyguanosine and guanosine in human B and T lymphoblasts. A role for deoxyguanosine kinase activity in the selective T-cell defect associated with purine nucleoside phosphorylase deficiencyDesign of vectors for efficient expression of human purine nucleoside phosphorylase in skin fibroblasts from enzyme-deficient humans.Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.Purine nucleoside phosphorylase deficiency. Measurement of variant protein in four families with enzyme-deficient members by an enzyme-linked immunosorbent assayPurine nucleoside phosphorylase is associated with centrioles and basal bodies.Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.[18F]CFA as a clinically translatable probe for PET imaging of deoxycytidine kinase activity.
P2860
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P2860
Purine nucleoside phosphorylase deficiency. Evidence for molecular heterogeneity in two families with enzyme-deficient members.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on September 1977
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Purine nucleoside phosphorylas ...... with enzyme-deficient members.
@en
Purine nucleoside phosphorylas ...... with enzyme-deficient members.
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type
label
Purine nucleoside phosphorylas ...... with enzyme-deficient members.
@en
Purine nucleoside phosphorylas ...... with enzyme-deficient members.
@nl
prefLabel
Purine nucleoside phosphorylas ...... with enzyme-deficient members.
@en
Purine nucleoside phosphorylas ...... with enzyme-deficient members.
@nl
P2093
P2860
P356
P1476
Purine nucleoside phosphorylas ...... with enzyme-deficient members.
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P2093
P2860
P304
P356
10.1172/JCI108826
P407
P577
1977-09-01T00:00:00Z