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Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency.
Muniz, Joao R C; Szeto, Natalie Wing-Sum; Frise, Rebecca; Lee, Wen Hwa; Wang, Xian-Song; Thöny, Beat; Himmelreich, Nastassja; Blau, Nenad; Hsiao, Kwang-Jen; Liu, Tze-Tze; Gileadi, Opher; Oppermann, Udo; Von Delft, Frank; Yue, Wyatt W; Tang, Nelson Leung-Sang.
Affiliation
  • Muniz JRC; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, United Kingdom.
  • Szeto NW; Department of Chemical Pathology and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong.
  • Frise R; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, United Kingdom.
  • Lee WH; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, United Kingdom.
  • Wang XS; Department of Chemical Pathology and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong.
  • Thöny B; Division of Metabolism, University Children's Hospital, Zurich, Switzerland.
  • Himmelreich N; Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.
  • Blau N; Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.
  • Hsiao KJ; Department of Medical Research, Taipei Veterans General Hospital, Taiwan; Preventive Medicine Foundation, Taipei, Taiwan; Department of Education and Research, Taipei City Hospital, Taipei, Taiwan.
  • Liu TT; Department of Education and Research, Taipei City Hospital, Taipei, Taiwan; Genome Research Center, National Yang-Ming University, Taiwan.
  • Gileadi O; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, United Kingdom.
  • Oppermann U; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, United Kingdom; Botnar Research Centre, Oxford Biomedical Research Unit, United Kingdom.
  • Von Delft F; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, United Kingdom; Diamond Light Source Ltd, Harwell Science and Innovation Campus, Didcot, United Kingdom; Department of Biochemistry, University of Johannesburg, Auckland Park, South Africa.
  • Yue WW; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, United Kingdom. Electronic address: wyatt.yue@sgc.ox.ac.uk.
  • Tang NL; Department of Chemical Pathology and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong. Electronic address: nelsontang@cuhk.edu.hk.
Pathology ; 51(3): 274-280, 2019 Apr.
Article de En | MEDLINE | ID: mdl-30853107
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénylcétonuries / Phosphorus-oxygen lyases / Mutation Type d'étude: Prognostic_studies Limites: Humans Langue: En Journal: Pathology Année: 2019 Type de document: Article Pays d'affiliation: Royaume-Uni
Texte intégral
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Imprimer
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénylcétonuries / Phosphorus-oxygen lyases / Mutation Type d'étude: Prognostic_studies Limites: Humans Langue: En Journal: Pathology Année: 2019 Type de document: Article Pays d'affiliation: Royaume-Uni