Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity

Human Mutation - Tập 34 Số 2 - Trang 296-300 - 2013
Arianna Tucci1,2, Eleanna Kara1,2, Anna Schossig3, Nicole I. Wolf4, Vincent Plagnol5, Katherine A. Fawcett1, Matthew Moore6, Dena Hernández6, S Musumeci7, Michael Tennison8, Raoul C. M. Hennekam9, Silvia Palmeri10, Alessandro Malandrini10, Salmo Raskin11, Dian Donnai12, Corina Hennig13, Andreas Tzschach14, Roel Hordijk15, Thomas Bast16, Katharina Wimmer3, Chien-Ning Lo1, Simon Shorvon1, Heather C Mefford17, Evan E. Eichler18, Roger Hall19, Ian Hayes20, John Hardy1, Andrew Singleton6, Johannes Zschocke3, Henry Houlden1
1Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK
2these authors contributed equally to the study
3Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
4Department of Child Neurology, VU University Medical Centre, Amsterdam, The Netherlands
5University College London (UCL) Genetics Institute (UGI), London, UK
6Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland
7Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina (EN), Italy
8Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina
9Department of Pediatrics, Academic Medical Centre, Amsterdam, The Netherlands
10Department of Neurological, Neurosurgical and Behavioural Sciences, Siena University, Siena, Italy
11Núcleo de Investigação Molecular Avançada, Programa de Pós-Graduação em Ciências da Saúde, Centro de Ciencias Biológicas e da Saúde; Pontif icia Universidade Catolica do Paraná; Curitiba; PR; Brazil
12Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals, Manchester, UK
13Mitteldeutscher Praxisverbund Humangenetik, Dresden, Germany
14Institute of Human Genetics; Tübingen University; Germany
15Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands
16Epilepsy Centre Kork, Kehl-Kork, Germany
17Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington
18Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle, Washington
19Department of Dentistry, Royal Children's Hospital Parkville, Victoria, Australia
20Department of Medicine, University of Melbourne, Australia

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Tài liệu tham khảo

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Human Mutation

Tập 34 Số 2

296-300

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