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Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
Tapper, William J; Foulds, Nicola; Cross, Nicholas C P; Aranaz, Paula; Score, Joannah; Hidalgo-Curtis, Claire; Robinson, David O; Gibson, Jane; Ennis, Sarah; Temple, I Karen; Collins, Andrew.
Afiliação
  • Tapper WJ; Department of Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom ; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom.
  • Foulds N; UHS NHS Foundation Trust and Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom.
  • Cross NC; Department of Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom ; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom.
  • Aranaz P; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom ; Department of Genetics, School of Sciences, University of Navarra, Pamplona, Spain.
  • Score J; Department of Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom ; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom.
  • Hidalgo-Curtis C; Department of Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom ; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom.
  • Robinson DO; Department of Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom ; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom.
  • Gibson J; Department of Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom.
  • Ennis S; Department of Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom.
  • Temple IK; UHS NHS Foundation Trust and Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom.
  • Collins A; Department of Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom.
PLoS One ; 9(1): e86940, 2014.
Article em En | MEDLINE | ID: mdl-24497998
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise de Sequência de DNA / Predisposição Genética para Doença / Megalencefalia / Exoma / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise de Sequência de DNA / Predisposição Genética para Doença / Megalencefalia / Exoma / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article