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Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.
Liu, Pengfei; Gelowani, Violet; Zhang, Feng; Drory, Vivian E; Ben-Shachar, Shay; Roney, Erin; Medeiros, Adam C; Moore, Rebecca J; DiVincenzo, Christina; Burnette, William B; Higgins, Joseph J; Li, Jun; Orr-Urtreger, Avi; Lupski, James R.
Afiliação
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gelowani V; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Zhang F; State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200433, China.
  • Drory VE; Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel; Sacker Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Ben-Shachar S; Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel.
  • Roney E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Medeiros AC; Quest Diagnostics Inc., Athena Diagnostics, Worcester, MA 01605, USA.
  • Moore RJ; Quest Diagnostics Inc., Athena Diagnostics, Worcester, MA 01605, USA.
  • DiVincenzo C; Quest Diagnostics Inc., Athena Diagnostics, Worcester, MA 01605, USA.
  • Burnette WB; Department of Neurology, Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA; Department of Pediatrics, Vanderbilt University, Nashville, TN 37232, USA.
  • Higgins JJ; Quest Diagnostics Inc., Athena Diagnostics, Worcester, MA 01605, USA.
  • Li J; Department of Neurology, Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA.
  • Orr-Urtreger A; Sacker Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.
Am J Hum Genet ; 94(3): 462-9, 2014 Mar 06.
Article em En | MEDLINE | ID: mdl-24530202
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Duplicação Gênica Tipo de estudo: Prevalence_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Duplicação Gênica Tipo de estudo: Prevalence_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article