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Spectrum of mutations in MMACHC,allelic expression,and evidence for genotype–phenotype correlations
Authors:Jordan P Lerner‐Ellis  Natascia Anastasio  Junhui Liu  David Coelho  Terttu Suormala  Martin Stucki  Amanda D Loewy  Scott Gurd  Elin Grundberg  Chantal F Morel  David Watkins  Matthias R Baumgartner  Tomi Pastinen  David S Rosenblatt  Brian Fowler
Institution:1. Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada;2. Department of Human Genetics, McGill University, Montreal, Quebec, Canada;3. McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada;4. Metabolic Unit, University Children's Hospital, Basel, Switzerland;5. Jordan P. Lerner‐Ellis and Natascia Anastasio contributed equally to this work.;6. Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland;7. Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland;8. Department of Medicine, University Health Network, University of Toronto, Toronto, Ontario, Canada
Abstract:
Keywords:vitamin B12  cobalamin  hyperhomocysteinemia  homocystinuria  methylmalonic aciduria  MMACHC
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