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Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hannan, Fadil M; Howles, Sarah A; Rogers, Angela; Cranston, Treena; Gorvin, Caroline M; Babinsky, Valerie N; Reed, Anita A; Thakker, Clare E; Bockenhauer, Detlef; Brown, Rosalind S; Connell, John M; Cook, Jacqueline; Darzy, Ken; Ehtisham, Sarah; Graham, Una; Hulse, Tony; Hunter, Steven J; Izatt, Louise; Kumar, Dhavendra; McKenna, Malachi J; McKnight, John A; Morrison, Patrick J; Mughal, M Zulf; O'Halloran, Domhnall; Pearce, Simon H; Porteous, Mary E; Rahman, Mushtaqur; Richardson, Tristan; Robinson, Robert; Scheers, Isabelle; Siddique, Haroon; Van't Hoff, William G; Wang, Timothy; Whyte, Michael P; Nesbit, M Andrew; Thakker, Rajesh V.
Afiliación
  • Hannan FM; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Howles SA; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Rogers A; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Cranston T; Oxford Molecular Genetics Laboratory, Churchill Hospital, Oxford, UK.
  • Gorvin CM; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Babinsky VN; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Reed AA; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Thakker CE; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Bockenhauer D; Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Institute of Child Health, London, UK.
  • Brown RS; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.
  • Connell JM; School of Medicine, Ninewells Hospital, University of Dundee, Dundee, UK.
  • Cook J; Clinical Genetics Department, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
  • Darzy K; Queen Elizabeth II Hospital, Welwyn Garden City, UK.
  • Ehtisham S; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.
  • Graham U; Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast, UK.
  • Hulse T; Department of Paediatrics, Evelina London Children's Hospital, St. Thomas' Hospital, London, UK.
  • Hunter SJ; Regional Centre for Endocrinology and Diabetes, Royal Victoria Hospital, Belfast, UK.
  • Izatt L; Department of Clinical Genetics, Guy's Hospital, London, UK.
  • Kumar D; Institute of Cancer and Genetics, University Hospital of Wales, Cardiff, UK.
  • McKenna MJ; Department of Endocrinology, St. Vincent's University Hospital, Dublin, Ireland.
  • McKnight JA; Metabolic Unit, Western General Hospital, NHS Lothian and University of Edinburgh, Edinburgh, UK.
  • Morrison PJ; Centre for Cancer Research and Cell Biology, Queens University of Belfast, Belfast, UK, Department of Genetic Medicine, Belfast HSC Trust, Belfast, UK.
  • Mughal MZ; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.
  • O'Halloran D; Department of Endocrinology, Cork University Hospital, Cork, Ireland.
  • Pearce SH; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Porteous ME; SE Scotland Genetic Service, Western General Hospital, Edinburgh, UK.
  • Rahman M; Department of Endocrinology, Northwick Park Hospital, London, UK.
  • Richardson T; Diabetes and Endocrine Centre, Royal Bournemouth Hospital, Bournemouth, UK.
  • Robinson R; Department of Endocrinology, Chesterfield Royal Hospital NHS Foundation Trust, Derbyshire, UK.
  • Scheers I; Pediatric Gastroenterology, Hepatology and Nutrition Unit, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
  • Siddique H; Department of Endocrinology, Russells Hall Hospital, Dudley, UK.
  • Van't Hoff WG; Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Institute of Child Health, London, UK.
  • Wang T; Department of Clinical Biochemistry, Frimley Park Hospital, Surrey, UK and.
  • Whyte MP; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, Missouri, USA.
  • Nesbit MA; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Thakker RV; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK, rajesh.thakker@ndm.ox.ac.uk.
Hum Mol Genet ; 24(18): 5079-92, 2015 Sep 15.
Article en En | MEDLINE | ID: mdl-26082470
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Codón / Complejo 2 de Proteína Adaptadora / Subunidades sigma de Complejo de Proteína Adaptadora / Estudios de Asociación Genética / Genes Dominantes / Hipercalcemia / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Codón / Complejo 2 de Proteína Adaptadora / Subunidades sigma de Complejo de Proteína Adaptadora / Estudios de Asociación Genética / Genes Dominantes / Hipercalcemia / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido