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Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.
Tacik, Pawel; Guthrie, Kimberly J; Strongosky, Audrey J; Broderick, Daniel F; Riegert-Johnson, Douglas L; Tang, Sha; El-Khechen, Dima; Parker, Alexander S; Ross, Owen A; Wszolek, Zbigniew K.
Afiliação
  • Tacik P; Department of Neurology, Mayo Clinic, Jacksonville, FL.
  • Guthrie KJ; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL.
  • Strongosky AJ; Department of Neurology, Mayo Clinic, Jacksonville, FL.
  • Broderick DF; Department of Radiology, Mayo Clinic, Jacksonville, FL.
  • Riegert-Johnson DL; Department of Medical Genetics, Mayo Clinic, Jacksonville, FL.
  • Tang S; Ambry Genetics Corp, Aliso Viejo, CA.
  • El-Khechen D; Ambry Genetics Corp, Aliso Viejo, CA.
  • Parker AS; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL.
  • Ross OA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL.
  • Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, FL. Electronic address: Wszolek.Zbigniew@mayo.edu.
Mayo Clin Proc ; 90(3): 366-71, 2015 Mar.
Article em En | MEDLINE | ID: mdl-25659636
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Mioquimia / Sequenciamento de Nucleotídeos em Larga Escala / Exoma Tipo de estudo: Diagnostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Mioquimia / Sequenciamento de Nucleotídeos em Larga Escala / Exoma Tipo de estudo: Diagnostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article