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A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
Alakbarzade, Vafa; Hameed, Abdul; Quek, Debra Q Y; Chioza, Barry A; Baple, Emma L; Cazenave-Gassiot, Amaury; Nguyen, Long N; Wenk, Markus R; Ahmad, Arshia Q; Sreekantan-Nair, Ajith; Weedon, Michael N; Rich, Phil; Patton, Michael A; Warner, Thomas T; Silver, David L; Crosby, Andrew H.
Afiliação
  • Alakbarzade V; 1] Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Exeter, UK. [2] Reta Lila Weston Institute of Neurological Studies, Department of Molecular Neurosciences, University College London Institute of Neurology, London, UK.
  • Hameed A; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
  • Quek DQ; Signature Research Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore Graduate Medical School, Singapore.
  • Chioza BA; Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Exeter, UK.
  • Baple EL; 1] Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Exeter, UK. [2] Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK. [3] Wessex Clinical Genetics Service, Princess Anne Hospital, Sout
  • Cazenave-Gassiot A; Life Sciences Institute, National University of Singapore, Singapore.
  • Nguyen LN; Signature Research Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore Graduate Medical School, Singapore.
  • Wenk MR; Life Sciences Institute, National University of Singapore, Singapore.
  • Ahmad AQ; 1] Department of Physical Medicine and Rehabilitation, Indiana University-Purdue University Indianapolis (IUPUI), Indianapolis, Indiana, USA. [2] Rehabilitation Hospital Indiana, Indianapolis, Indiana, USA.
  • Sreekantan-Nair A; Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Exeter, UK.
  • Weedon MN; Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Exeter, UK.
  • Rich P; Department of Neuroradiology, St. George's Hospital, London, UK.
  • Patton MA; 1] Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Exeter, UK. [2] Southwest Thames Regional Genetics Service, St George's Healthcare National Health Service (NHS) Trust, London, UK.
  • Warner TT; Reta Lila Weston Institute of Neurological Studies, Department of Molecular Neurosciences, University College London Institute of Neurology, London, UK.
  • Silver DL; Signature Research Program in Cardiovascular and Metabolic Disorders, Duke-National University of Singapore Graduate Medical School, Singapore.
  • Crosby AH; Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Exeter, UK.
Nat Genet ; 47(7): 814-7, 2015 Jul.
Article em En | MEDLINE | ID: mdl-26005865
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ácidos Graxos Ômega-3 / Proteínas Supressoras de Tumor / Microcefalia Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ácidos Graxos Ômega-3 / Proteínas Supressoras de Tumor / Microcefalia Idioma: En Ano de publicação: 2015 Tipo de documento: Article