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Large inverted duplications in the human genome form via a fold-back mechanism.
Hermetz, Karen E; Newman, Scott; Conneely, Karen N; Martin, Christa L; Ballif, Blake C; Shaffer, Lisa G; Cody, Jannine D; Rudd, M Katharine.
Afiliación
  • Hermetz KE; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.
  • Newman S; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.
  • Conneely KN; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America ; Department of Biostatistics and Bioinformatics, Emory University School of Public Health, Atlanta, Georgia, United States of America.
  • Martin CL; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.
  • Ballif BC; Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, United States of America.
  • Shaffer LG; Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, United States of America.
  • Cody JD; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas, United States of America ; The Chromosome 18 Registry and Research Society, San Antonio, Texas, United States of America.
  • Rudd MK; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.
PLoS Genet ; 10(1): e1004139, 2014 Jan.
Article en En | MEDLINE | ID: mdl-24497845
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Duplicaciones Segmentarias en el Genoma / Variaciones en el Número de Copia de ADN / Discapacidad Intelectual Límite: Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastorno Autístico / Duplicaciones Segmentarias en el Genoma / Variaciones en el Número de Copia de ADN / Discapacidad Intelectual Límite: Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos