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The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Boone, Philip M; Yuan, Bo; Campbell, Ian M; Scull, Jennifer C; Withers, Marjorie A; Baggett, Brett C; Beck, Christine R; Shaw, Christine J; Stankiewicz, Pawel; Moretti, Paolo; Goodwin, Wendy E; Hein, Nichole; Fink, John K; Seong, Moon-Woo; Seo, Soo Hyun; Park, Sung Sup; Karbassi, Izabela D; Batish, Sat Dev; Ordóñez-Ugalde, Andrés; Quintáns, Beatriz; Sobrido, María-Jesús; Stemmler, Susanne; Lupski, James R.
Afiliação
  • Boone PM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Campbell IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Scull JC; Medical Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA.
  • Withers MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Baggett BC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Beck CR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Shaw CJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA.
  • Moretti P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA; Michael E. DeBakey VA Medical Center, Houston, TX 77030, USA.
  • Goodwin WE; Children's Medical Center of Dallas, Dallas, TX 75207, USA.
  • Hein N; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.
  • Fink JK; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA; Geriatrics Research Education and Clinical Center, Ann Arbor, MI 48105, USA; Veterans Affairs Medical Center, Ann Arbor, MI 48015, USA.
  • Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul 110-799, Korea.
  • Seo SH; Department of Laboratory Medicine, Seoul National University Hospital, Seoul 110-799, Korea.
  • Park SS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul 110-799, Korea.
  • Karbassi ID; Quest Diagnostics, Athena Diagnostics, Worcester, MA 01605, USA.
  • Batish SD; Quest Diagnostics, Athena Diagnostics, Worcester, MA 01605, USA.
  • Ordóñez-Ugalde A; Fundación Pública Galega de Medicina Xenómica-SERGAS, IDIS, CIBERER, Santiago de Compostela 15706, Spain.
  • Quintáns B; Fundación Pública Galega de Medicina Xenómica-SERGAS, IDIS, CIBERER, Santiago de Compostela 15706, Spain.
  • Sobrido MJ; Fundación Pública Galega de Medicina Xenómica-SERGAS, IDIS, CIBERER, Santiago de Compostela 15706, Spain.
  • Stemmler S; Department of Human Genetics, Ruhr University, Bochum 44801, Germany.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 7703
Am J Hum Genet ; 95(2): 143-61, 2014 Aug 07.
Article em En | MEDLINE | ID: mdl-25065914
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Adenosina Trifosfatases / Elementos Alu / Proteínas de Transporte de Cátions / Variações do Número de Cópias de DNA Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Adenosina Trifosfatases / Elementos Alu / Proteínas de Transporte de Cátions / Variações do Número de Cópias de DNA Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article