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Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
Lam, Wayne W K; Millichap, John J; Soares, Dinesh C; Chin, Richard; McLellan, Ailsa; FitzPatrick, David R; Elmslie, Frances; Lees, Melissa M; Schaefer, G Bradley; Abbott, Catherine M.
Affiliation
  • Lam WW; South East of Scotland Clinical Genetics ServiceCrewe RoadEdinburghUK; Centre for Genomic & Experimental MedicineMRC Institute of Genetics and Molecular MedicineUniversity of EdinburghWestern General HospitalCrewe RoadEdinburghEH4 2XUUK; Muir Maxwell Epilepsy CentreUniversity of Edinburgh20 Sylv
  • Millichap JJ; Epilepsy Center Departments of Pediatrics and Neurology Ann & Robert H. Lurie Children's Hospital of Chicago Northwestern University Feinberg School of Medicine 225 E Chicago Ave Box #29 Chicago Illinois 60611.
  • Soares DC; Centre for Genomic & Experimental MedicineMRC Institute of Genetics and Molecular MedicineUniversity of EdinburghWestern General HospitalCrewe RoadEdinburghEH4 2XUUK; MRC Human Genetics UnitMRC Institute of Genetics and Molecular MedicineUniversity of EdinburghWestern General HospitalCrewe RoadE
  • Chin R; Muir Maxwell Epilepsy CentreUniversity of Edinburgh20 Sylvan PlaceEdinburghEH9 1UWUK; Paediatric NeurosciencesRoyal Hospital for Sick ChildrenSciennes RoadEdinburghEH9 1LFUK; Child Life and HealthUniversity of Edinburgh20 Sylvan PlaceEdinburghEH9 1UWUK.
  • McLellan A; Paediatric Neurosciences Royal Hospital for Sick Children Sciennes Road Edinburgh EH9 1LF UK.
  • FitzPatrick DR; Paediatric NeurosciencesRoyal Hospital for Sick ChildrenSciennes RoadEdinburghEH9 1LFUK; MRC Human Genetics UnitMRC Institute of Genetics and Molecular MedicineUniversity of EdinburghWestern General HospitalCrewe RoadEdinburghEH4 2XUUK.
  • Elmslie F; South West Thames Regional Genetics Service St George's Hospital Tooting London UK.
  • Lees MM; Department of Clinical Genetics Great Ormond Street Hospital Great Ormond Street London UK.
  • Schaefer GB; Division of Medical Genetics Arkansas Children's Hospital Little Rock Arkansas.
  • Abbott CM; Centre for Genomic & Experimental MedicineMRC Institute of Genetics and Molecular MedicineUniversity of EdinburghWestern General HospitalCrewe RoadEdinburghEH4 2XUUK; Muir Maxwell Epilepsy CentreUniversity of Edinburgh20 Sylvan PlaceEdinburghEH9 1UWUK.
Mol Genet Genomic Med ; 4(4): 465-74, 2016 Jul.
Article in En | MEDLINE | ID: mdl-27441201
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Full text: 1 Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Mol Genet Genomic Med Year: 2016 Type: Article
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Full text: 1 Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Mol Genet Genomic Med Year: 2016 Type: Article