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CFTR mutational screening by next-generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population.
Farra, Chantal; Awwad, Johnny; Hamadeh, Lama; Khoueiry, Pierre; Halawi, Zeina; Yazbeck, Nadine; Daher, Rose; Souaid, Mirna; Hamdar, Layal; Yammine, Tony; Yunis, Khalid.
Afiliación
  • Farra C; Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon.
  • Awwad J; Medical Genetics Unit, Department of pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Hamadeh L; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.
  • Khoueiry P; Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon.
  • Halawi Z; Medical Genetics Unit, Department of pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Yazbeck N; Department of Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut, Lebanon.
  • Daher R; Medical Genetics Unit, Department of pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Souaid M; Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon.
  • Hamdar L; Medical Genetics Unit, Department of pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Yammine T; Medical Genetics Unit, Department of pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Yunis K; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.
Ann Hum Genet ; 86(2): 80-86, 2022 03.
Article en En | MEDLINE | ID: mdl-34888852
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: Ann Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Líbano
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: Ann Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Líbano