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Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.
Vasli, Nasim; Ahmed, Iltaf; Mittal, Kirti; Ohadi, Mehrnaz; Mikhailov, Anna; Rafiq, Muhammad A; Bhatti, Attya; Carter, Melissa T; Andrade, Danielle M; Ayub, Muhammad; Vincent, John B; John, Peter.
Afiliação
  • Vasli N; aMolecular Neuropsychiatry and Development Lab, The Centre for Addiction & Mental Health (CAMH), The Campbell Family Brain Research Institute bDepartment of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children cDepartment of Medicine, Division of Neurology dDepartment of Psychiatry eInstitute of Medical Science, University of Toronto fKrembil Neuroscience Centre, Toronto Western Research Institute, Toronto gDepartment of Psychiatry, Division of Developmenta
Psychiatr Genet ; 26(2): 66-73, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26529358

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Proteína-2 Relacionada a Receptor de Lipoproteína de Baixa Densidade / Deficiência Intelectual País/Região como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Proteína-2 Relacionada a Receptor de Lipoproteína de Baixa Densidade / Deficiência Intelectual País/Região como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article