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The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters, Aoife M; Asfahani, Rowan; Carroll, Paula; Bicknell, Louise; Lescai, Francesco; Bright, Alison; Chanudet, Estelle; Brooks, Anthony; Christou-Savina, Sonja; Osman, Guled; Walsh, Patrick; Bacchelli, Chiara; Chapgier, Ariane; Vernay, Bertrand; Bader, David M; Deshpande, Charu; O' Sullivan, Mary; Ocaka, Louise; Stanescu, Horia; Stewart, Helen S; Hildebrandt, Friedhelm; Otto, Edgar; Johnson, Colin A; Szymanska, Katarzyna; Katsanis, Nicholas; Davis, Erica; Kleta, Robert; Hubank, Mike; Doxsey, Stephen; Jackson, Andrew; Stupka, Elia; Winey, Mark; Beales, Philip L.
Afiliación
  • Waters AM; Institute of Child Health, University College London, London, UK Department of Nephrology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
  • Asfahani R; Institute of Child Health, University College London, London, UK.
  • Carroll P; Institute of Genetics & Molecular Medicine, Edinburgh, UK.
  • Bicknell L; Institute of Genetics & Molecular Medicine, Edinburgh, UK.
  • Lescai F; Institute of Child Health, University College London, London, UK.
  • Bright A; University of Massachusetts, Boston, USA.
  • Chanudet E; Institute of Child Health, University College London, London, UK.
  • Brooks A; Institute of Child Health, University College London, London, UK.
  • Christou-Savina S; Institute of Child Health, University College London, London, UK.
  • Osman G; Institute of Child Health, University College London, London, UK.
  • Walsh P; Institute of Child Health, University College London, London, UK.
  • Bacchelli C; Institute of Child Health, University College London, London, UK.
  • Chapgier A; Institute of Child Health, University College London, London, UK.
  • Vernay B; Institute of Child Health, University College London, London, UK.
  • Bader DM; Department of Cell and Developmental Biology, Vanderbilt University, USA.
  • Deshpande C; Department of Clinical Genetics, Evelina Children's Hospital, London, UK.
  • O' Sullivan M; Institute of Child Health, University College London, London, UK.
  • Ocaka L; Institute of Child Health, University College London, London, UK.
  • Stanescu H; Centre for Nephrology, Royal Free Hospital, University College London, London, UK.
  • Stewart HS; Department of Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, Churchill Hospital, Oxford, UK.
  • Hildebrandt F; Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, USA.
  • Otto E; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
  • Johnson CA; Department of Pediatrics, Leeds Institute of Biomedical and Clinical Sciences, Leeds, UK.
  • Szymanska K; Department of Pediatrics, Leeds Institute of Biomedical and Clinical Sciences, Leeds, UK.
  • Katsanis N; Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center.
  • Davis E; Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center.
  • Kleta R; Centre for Nephrology, Royal Free Hospital, University College London, London, UK.
  • Hubank M; Institute of Child Health, University College London, London, UK.
  • Doxsey S; University of Massachusetts, Boston, USA.
  • Jackson A; Institute of Genetics & Molecular Medicine, Edinburgh, UK MRC Human Genetics, University of Edinburgh, Edinburgh, UK.
  • Stupka E; Institute of Child Health, University College London, London, UK.
  • Winey M; Molecular, Ceullular, and Developmental Biology, University of Colorado at Boulder, Boulder, CO 80309, USA.
  • Beales PL; Institute of Child Health, University College London, London, UK.
J Med Genet ; 52(3): 147-56, 2015 Mar.
Article en En | MEDLINE | ID: mdl-25564561
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Cromosómicas no Histona / Cilios / Genética Médica / Microcefalia / Proteínas de Microfilamentos Límite: Animals / Female / Humans / Male / Pregnancy Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Añadir a Mi BVS
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Cromosómicas no Histona / Cilios / Genética Médica / Microcefalia / Proteínas de Microfilamentos Límite: Animals / Female / Humans / Male / Pregnancy Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido