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المؤلفون: Gianfranco Sebastio, Vivian E. Shih, Henk J. Blom, Godfried H.J. Boers, Maria Pia Sperandeo, Jan P. Kraus, Miroslav Janosik, Pierre Kamoun, Mette Gaustadnes, Ross B. Gordon, Leo A. J. Kluijtmans, Generoso Andria, Raffaella de Franchis, Roseann Mandell, Hans G. Koch, Toshihiro Ohura, Warren D. Kruger, Viktor Kožich, Michael Y. Tsai
المصدر: Human Mutation. 13:362-375
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Methionine, biology, Homocysteine, Homocystinuria, medicine.disease, medicine.disease_cause, Cystathionine beta synthase, chemistry.chemical_compound, chemistry, biology.protein, medicine, Missense mutation, Gene, Genetics (clinical), Cysteine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::77a071755e59e011a6fd8bcfae61d348
https://doi.org/10.1002/(sici)1098-1004(1999)13:5<362::aid-humu4>3.0.co;2-k -
2Bound Tris Confounds the Identification of Binding Site Residues in a Paraquat Single Chain Antibody
المؤلفون: Susan M. Pond, Terrence D. Mulhern, Iain A. Sharpe, Ross B. Gordon, Hayley R. Inglis, Mark R. Bowles, Jan L. Cogill
المصدر: Journal of Biochemistry. 122:101-108
مصطلحات موضوعية: Electrophoresis, Paraquat, Tris, Magnetic Resonance Spectroscopy, Stereochemistry, Phagemid, Biochemistry, Antibodies, Mice, chemistry.chemical_compound, Animals, Cloning, Molecular, Tromethamine, Binding site, Tyrosine, Site-directed mutagenesis, Immunoglobulin Fragments, Molecular Biology, Base Sequence, General Medicine, Nuclear magnetic resonance spectroscopy, Hydrogen-Ion Concentration, Directed mutagenesis, chemistry, Mutagenesis, Site-Directed
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b0d114a0fc1a41c099e123de03691c4
https://doi.org/10.1093/oxfordjournals.jbchem.a021716 -
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المؤلفون: Paul A. Dawson, Anthony J. Cox, Bryan T. Emmerson, Nicholas P.B. Dudman, Jan P. Kraus, Ross B. Gordon
المصدر: European Journal of Human Genetics. 5:15-21
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9a2a30f602d622717bcc08ae603eda20
https://doi.org/10.1159/000484726 -
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المؤلفون: Paul A. Dawson, Bryan T. Emmerson, Ross B. Gordon, Dianne T. Keough
المصدر: Molecular Genetics and Metabolism. 85:78-80
مصطلحات موضوعية: Adult, Male, Hypoxanthine Phosphoribosyltransferase, congenital, hereditary, and neonatal diseases and abnormalities, DNA, Complementary, Gout, cells, Endocrinology, Diabetes and Metabolism, genetic processes, Biology, medicine.disease_cause, Biochemistry, Gene Expression Regulation, Enzymologic, Endocrinology, Complementary DNA, Genetics, medicine, Humans, Coding region, Lymphocytes, Molecular Biology, Gene, Mutation, nutritional and metabolic diseases, DNA, medicine.disease, Molecular biology, enzymes and coenzymes (carbohydrates), Hypoxanthine-guanine phosphoribosyltransferase, biology.protein, Phosphoribosyltransferase, Lesch–Nyhan syndrome
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المؤلفون: Bryan T. Emmerson, Ross B. Gordon, Lambro A. Johnson
المصدر: Ciba Foundation Symposium 48-Purine and Pyrimidine Metabolism
مصطلحات موضوعية: chemistry.chemical_classification, congenital, hereditary, and neonatal diseases and abnormalities, biology, Chemistry, Heterozygote advantage, Molecular biology, In vitro, Enzyme assay, Enzyme, Biochemistry, Hypoxanthine-guanine phosphoribosyltransferase, Hemizygote, biology.protein, Phosphoribosyltransferase, Purine metabolism
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b72d5d9f06bdd9d623910746465e3534
https://doi.org/10.1002/9780470720301.ch7 -
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المؤلفون: Miranda L. Free, D.T. Keough, Bryan T. Emmerson, Ross B. Gordon, John de Jersey, Ifor R. Beacham
المصدر: Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1087:205-211
مصطلحات موضوعية: Hypoxanthine Phosphoribosyltransferase, Guanine, cells, genetic processes, Biophysics, Gene Expression, Biology, Biochemistry, law.invention, chemistry.chemical_compound, Methionine, Structural Biology, law, Escherichia coli, Genetics, Humans, Cloning, Molecular, Expression vector, Lymphoblast, Genetic transfer, nutritional and metabolic diseases, DNA, Exons, Molecular biology, Recombinant Proteins, Kinetics, enzymes and coenzymes (carbohydrates), Genes, chemistry, Hypoxanthine-guanine phosphoribosyltransferase, Chromatography, Gel, Recombinant DNA, biology.protein, Phosphoribosyltransferase, Electrophoresis, Polyacrylamide Gel, Transformation, Bacterial, Plasmids
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المصدر: The Journal of nutrition. 126
مصطلحات موضوعية: Male, medicine.medical_specialty, Hyperhomocysteinemia, Homocysteine, Medicine (miscellaneous), Transsulfuration, Homocystinuria, Arterial Occlusive Diseases, Transsulfuration pathway, chemistry.chemical_compound, Betaine, Internal medicine, Serine, Medicine, Humans, Nutrition and Dietetics, Methionine, biology, business.industry, medicine.disease, Cystathionine beta synthase, Endocrinology, chemistry, biology.protein, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::531431719fd35d15ad4d512c98ed2976
https://pubmed.ncbi.nlm.nih.gov/8642474 -
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المؤلفون: D. A. E. Cochran, Ross B. Gordon, Jan P. Kraus, Nicholas P.B. Dudman, Paul A. Dawson, Bryan T. Emmerson
المصدر: Australian and New Zealand journal of medicine. 26(2)
مصطلحات موضوعية: Proband, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, Homocysteine, Adolescent, Molecular Sequence Data, Glycine, Cystathionine beta-Synthase, Homocystinuria, chemistry.chemical_compound, Internal Medicine, medicine, Serine, Humans, Amino Acid Sequence, Allele, Genetics, Methionine, biology, Heterozygote advantage, Single-strand conformation polymorphism, medicine.disease, Cystathionine beta synthase, Phenotype, chemistry, Mutation, biology.protein, Female
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المؤلفون: D. Scott, Ralph Cobcroft, Russell Saal, Ross B. Gordon
المصدر: British journal of haematology. 91(3)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Molecular Sequence Data, Gene Rearrangement, B-Lymphocyte, Heavy Chain, Biology, Polymerase Chain Reaction, Sensitivity and Specificity, hemic and lymphatic diseases, Acute lymphocytic leukemia, medicine, Humans, Progenitor cell, Clonogenic assay, B cell, B-Lymphocytes, Base Sequence, Lymphoma, Non-Hodgkin, Hematology, Gene rearrangement, medicine.disease, Minimal residual disease, Molecular biology, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, medicine.anatomical_structure, Acute Disease, Bone marrow, DNA Probes
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المؤلفون: Ju Chen, Brian T. Emmerson, F. Moro, Mitchell S. Turker, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Ross B. Gordon, S. Bye, Nada H. Khattar
المصدر: Purine and Pyrimidine Metabolism in Man VIII ISBN: 9781461361053
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, biology, business.industry, Adenine phosphoribosyltransferase, nutritional and metabolic diseases, Enzyme defect, Heterozygote advantage, medicine.disease, Enzyme assay, Gout, Endocrinology, Internal medicine, medicine, biology.protein, Hyperuricemia, business, Novel mutation, APRT activity
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e5cdcd894afdee335136070d2e248710
https://doi.org/10.1007/978-1-4615-2584-4_140