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Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.

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Title: Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.
Authors: Smith T; School of Life Sciences, University of Sussex, Brighton, United Kingdom., Ho G; NSW Centre for Rett Syndrome Research, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia., Christodoulou J; NSW Centre for Rett Syndrome Research, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia.; Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, Australia., Price EA; Retinoblastoma Genetic Screening Unit, Barts Health NHS Trust, The Royal London Hospital, 80 Newark Street, London, United Kingdom., Onadim Z; Retinoblastoma Genetic Screening Unit, Barts Health NHS Trust, The Royal London Hospital, 80 Newark Street, London, United Kingdom., Gauthier-Villars M; Service de Génétique, Institut Curie, Paris, France., Dehainault C; Service de Génétique, Institut Curie, Paris, France., Houdayer C; Service de Génétique, Institut Curie, Paris, France.; INSERM U830, centre de recherche de l'Institut Curie, Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, Paris, France., Parfait B; EA7331, Faculté de Pharmacie de Paris, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, AP-HP, Paris, France., van Minkelen R; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands., Lohman D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Eyre-Walker A; School of Life Sciences, University of Sussex, Brighton, United Kingdom.
Source: Human mutation [Hum Mutat] 2016 May; Vol. 37 (5), pp. 488-94. Date of Electronic Publication: 2016 Mar 14.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.
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  Data: <searchLink fieldCode="AU" term="%22Smith+T%22">Smith T</searchLink>; School of Life Sciences, University of Sussex, Brighton, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ho+G%22">Ho G</searchLink>; NSW Centre for Rett Syndrome Research, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; NSW Centre for Rett Syndrome Research, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia.; Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Price+EA%22">Price EA</searchLink>; Retinoblastoma Genetic Screening Unit, Barts Health NHS Trust, The Royal London Hospital, 80 Newark Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Onadim+Z%22">Onadim Z</searchLink>; Retinoblastoma Genetic Screening Unit, Barts Health NHS Trust, The Royal London Hospital, 80 Newark Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Gauthier-Villars+M%22">Gauthier-Villars M</searchLink>; Service de Génétique, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Dehainault+C%22">Dehainault C</searchLink>; Service de Génétique, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Houdayer+C%22">Houdayer C</searchLink>; Service de Génétique, Institut Curie, Paris, France.; INSERM U830, centre de recherche de l'Institut Curie, Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Parfait+B%22">Parfait B</searchLink>; EA7331, Faculté de Pharmacie de Paris, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22van+Minkelen+R%22">van Minkelen R</searchLink>; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Lohman+D%22">Lohman D</searchLink>; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Eyre-Walker+A%22">Eyre-Walker A</searchLink>; School of Life Sciences, University of Sussex, Brighton, United Kingdom.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2016 May; Vol. 37 (5), pp. 488-94. <i>Date of Electronic Publication: </i>2016 Mar 14.
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