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Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.
Chandrasekhar, Anjana; Mroczkowski, Henry J; Urraca, Nora; Gross, Andrew; Bluske, Krista; Thorpe, Erin; Hagelstrom, R Tanner; Schonberg, Steven A; Perry, Denise L; Taft, Ryan J; Kesari, Akanchha.
  • Chandrasekhar A; Illumina Inc, San Diego, California, USA.
  • Mroczkowski HJ; Department of Pediatrics, University of Tennessee Health Science Center and Le Bonheur Children's Hospital, Memphis, Tennessee, USA.
  • Urraca N; Department of Pediatrics, University of Tennessee Health Science Center and Le Bonheur Children's Hospital, Memphis, Tennessee, USA.
  • Gross A; Illumina Inc, San Diego, California, USA.
  • Bluske K; Illumina Inc, San Diego, California, USA.
  • Thorpe E; Illumina Inc, San Diego, California, USA.
  • Hagelstrom RT; Natera Inc, Austin, Texas, USA.
  • Schonberg SA; Quest Diagnostics, Chantilly, Virginia, USA.
  • Perry DL; Illumina Inc, San Diego, California, USA.
  • Taft RJ; Illumina Inc, San Diego, California, USA.
  • Kesari A; Illumina Inc, San Diego, California, USA.
Am J Med Genet A ; 194(3): e63462, 2024 Mar.
Article en En | MEDLINE | ID: mdl-37929330
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Distrofia Muscular de Duchenne / Trastorno del Espectro Autista / Distrofias Musculares Límite: Child, preschool / Female / Humans / Male Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Distrofia Muscular de Duchenne / Trastorno del Espectro Autista / Distrofias Musculares Límite: Child, preschool / Female / Humans / Male Idioma: En Año: 2024 Tipo del documento: Article