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Cystathionine β-synthase mutations in homocystinuria

Human mutation, 1999, Vol.13 (5), p.362-375

1999

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Normal HPRT coding region in a male with gout due to HPRT deficiency

Molecular genetics and metabolism, 2005-05, Vol.85 (1), p.78-80

2005

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Bound Tris Confounds the Identification of Binding Site Residues in a Paraquat Single Chain Antibody

Journal of biochemistry (Tokyo), 1997-07, Vol.122 (1), p.101-108

1997

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Production of a paraquat-specific murine single chain Fv fragment

Journal of biochemistry (Tokyo), 1995-09, Vol.118 (3), p.480-487

1995

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Cystathionine ?-synthase mutations in homocystinuria

Human mutation, 1999, Vol.13 (5), p.362-375

1999

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Human Homocysteine Catabolism: Three Major Pathways and Their Relevance to Development of Arterial Occlusive Disease

The Journal of nutrition, 1996-04, Vol.126 (45), p.1295S-1300S

1996

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A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

Human genetics, 1992-11, Vol.90 (3), p.195-207

1992

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Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria

European journal of human genetics : EJHG, 1997-01, Vol.5 (1), p.15-21

1997

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Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency

Metabolism, clinical and experimental, 1974-10, Vol.23 (10), p.921-927

1974

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Mutational analysis of the cystathionine β-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria

Human mutation, 1998, Vol.11 (4), p.332-332

1998

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Mutational analysis of the cystathionine [beta]-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria

Human mutation, 1998-01, Vol.11 (4), p.332

1998

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Inhibition of Plasmodium falciparum hypoxanthine-guanine phosphoribosyltransferase mRNA by antisense oligodeoxynucleotide sequence

Molecular and biochemical parasitology, 1993-07, Vol.60 (1), p.153-156

1993

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Characterisation of Five Missense Mutations in the Cystathionine Beta-Synthase Gene from Three Patients with B(6)-Nonresponsive Homocystinuria

European journal of human genetics : EJHG, 1997, Vol.5 (1), p.15-21

1997

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Production of a Paraquat-Specific Murine Single Chain Fv Fragment1

Journal of biochemistry (Tokyo), 1995-09, Vol.118 (3), p.480-487

1995

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A simple method for synthesis of B‐cell clonospecific probes

British journal of haematology, 1995-11, Vol.91 (3), p.575-577

1995

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The molecular characterisation of hprtchermside and HPRTcoorparoo: two Lesch-Nyhan patients with reduced amounts of mRNA

Gene, 1991-12, Vol.108 (2), p.299-304

1991

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Hypoxanthine-guanine phosphoribosyltransferase deficiency : analysis of HPRT mutations by direct sequencing and allele-specific amplification

Human genetics, 1991-10, Vol.87 (6), p.688-692

1991

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INHIBITION OF DE NOVO PURINE SYNTHESIS BY METHYLTHIOADENOSINE: 72

Pediatric research, 1985-07, Vol.19 (7), p.755-755

1985

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HGPRT deficiency with normal PRPP and APRT activity: 60

Pediatric research, 1985-07, Vol.19 (7), p.753-753

1985

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The molecular characterisation of hprt chermside and HPRT coorparoo: two Lesch-Nyhan patients with reduced amounts of mRNA

Gene, 1991-12, Vol.108 (2), p.299-304

1991

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Human hypoxanthine—guanine phosphoribosyltransferase. Development of a spectrophotometric assay and its use in detection and characterization of mutant forms

Clinica chimica acta, 1987-03, Vol.163 (3), p.301-308

1987

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Synthesis of purines in human lymphoblast cells deficient in methylthioadenosine phosphorylase activity

Biochimica et biophysica acta, 1987-01, Vol.927 (1), p.1-7

1987

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Inhibition of de novo purine synthesis by methylthioadenosine

Advances in experimental medicine and biology, 1986, Vol.195 Pt B, p.659

1986

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Expression of active human hypoxanthine-guanine phosphoribosyltransferase in Escherichia coli and characterisation of the recombinant enzyme

Biochimica et biophysica acta, 1990-10, Vol.1087 (2), p.205-211

1990

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Regulation of purine de novo synthesis in cultured human fibroblasts: the role of P-ribose-PP

Biochimica et biophysica acta, 1979-03, Vol.562 (1), p.162

1979

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Cystathionine β-synthase mutations in homocystinuria

Normal HPRT coding region in a male with gout due to HPRT deficiency

Bound Tris Confounds the Identification of Binding Site Residues in a Paraquat Single Chain Antibody

Production of a paraquat-specific murine single chain Fv fragment

Cystathionine ?-synthase mutations in homocystinuria

Human Homocysteine Catabolism: Three Major Pathways and Their Relevance to Development of Arterial Occlusive Disease

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria

Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency

Mutational analysis of the cystathionine β-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria

Mutational analysis of the cystathionine [beta]-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria

Inhibition of Plasmodium falciparum hypoxanthine-guanine phosphoribosyltransferase mRNA by antisense oligodeoxynucleotide sequence

Characterisation of Five Missense Mutations in the Cystathionine Beta-Synthase Gene from Three Patients with B(6)-Nonresponsive Homocystinuria

Production of a Paraquat-Specific Murine Single Chain Fv Fragment1

A simple method for synthesis of B‐cell clonospecific probes

The molecular characterisation of hprtchermside and HPRTcoorparoo: two Lesch-Nyhan patients with reduced amounts of mRNA

Hypoxanthine-guanine phosphoribosyltransferase deficiency : analysis of HPRT mutations by direct sequencing and allele-specific amplification

INHIBITION OF DE NOVO PURINE SYNTHESIS BY METHYLTHIOADENOSINE: 72

HGPRT deficiency with normal PRPP and APRT activity: 60

The molecular characterisation of hprt chermside and HPRT coorparoo: two Lesch-Nyhan patients with reduced amounts of mRNA

Human hypoxanthine—guanine phosphoribosyltransferase. Development of a spectrophotometric assay and its use in detection and characterization of mutant forms

Synthesis of purines in human lymphoblast cells deficient in methylthioadenosine phosphorylase activity

Inhibition of de novo purine synthesis by methylthioadenosine

Expression of active human hypoxanthine-guanine phosphoribosyltransferase in Escherichia coli and characterisation of the recombinant enzyme

Regulation of purine de novo synthesis in cultured human fibroblasts: the role of P-ribose-PP

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