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Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
Raza, M Hashim; Mattera, Rafael; Morell, Robert; Sainz, Eduardo; Rahn, Rachel; Gutierrez, Joanne; Paris, Emily; Root, Jessica; Solomon, Beth; Brewer, Carmen; Basra, M Asim Raza; Khan, Shaheen; Riazuddin, Sheikh; Braun, Allen; Bonifacino, Juan S; Drayna, Dennis.
Afiliación
  • Raza MH; National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA.
  • Mattera R; Cell Biology and Metabolism Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA.
  • Morell R; National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA.
  • Sainz E; National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA.
  • Rahn R; National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA.
  • Gutierrez J; National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA.
  • Paris E; National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA.
  • Root J; National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA.
  • Solomon B; Clinical Center Speech Language Pathology Service, NIH, Bethesda, MD 20892, USA.
  • Brewer C; National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA.
  • Basra MA; Institute of Chemistry, University of the Punjab, Lahore 54590, Pakistan.
  • Khan S; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 53700, Pakistan.
  • Riazuddin S; Alama Iqbal Medical Research Center, Lahore 54550, Pakistan.
  • Braun A; National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA.
  • Bonifacino JS; Cell Biology and Metabolism Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA.
  • Drayna D; National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA. Electronic address: drayna@nidcd.nih.gov.
Am J Hum Genet ; 97(5): 715-25, 2015 Nov 05.
Article en En | MEDLINE | ID: mdl-26544806
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tartamudeo / Hidrolasas Diéster Fosfóricas / Predisposición Genética a la Enfermedad / Transporte de Proteínas / Complejo 4 de Proteína Adaptadora / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tartamudeo / Hidrolasas Diéster Fosfóricas / Predisposición Genética a la Enfermedad / Transporte de Proteínas / Complejo 4 de Proteína Adaptadora / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos