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Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
Hughes, Erin E; Stevens, Colleen F; Saavedra-Matiz, Carlos A; Tavakoli, Norma P; Krein, Lea M; Parker, April; Zhang, Zhen; Maloney, Breanne; Vogel, Beth; DeCelie-Germana, Joan; Kier, Catherine; Anbar, Ran D; Berdella, Maria N; Comber, Paul G; Dozor, Allen J; Goetz, Danielle M; Guida, Louis; Kattan, Meyer; Ting, Andrew; Voter, Karen Z; van Roey, Patrick; Caggana, Michele; Kay, Denise M.
Afiliação
  • Hughes EE; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
  • Stevens CF; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
  • Saavedra-Matiz CA; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
  • Tavakoli NP; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
  • Krein LM; Department of Biomedical Sciences, School of Public Health, State University of New York, Albany, New York.
  • Parker A; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
  • Zhang Z; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
  • Maloney B; Applied Genomics Technologies Core, Wadsworth Center, New York State Department of Health, Albany, New York.
  • Vogel B; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
  • DeCelie-Germana J; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
  • Kier C; Cohen Children's Medical Center of New York, Great Neck, New York.
  • Anbar RD; University Medical Center at Stony Brook, Stony Brook, New York.
  • Berdella MN; SUNY Upstate Medical University/Golisano Children's Hospital, Syracuse, New York.
  • Comber PG; The Cystic Fibrosis Center, Mount Sinai Beth Israel, New York, New York.
  • Dozor AJ; Albany Medical Center, Albany, New York.
  • Goetz DM; Maria Fareri Children's Hospital at Westchester Medical Center and New York Medical College, Valhalla, New York.
  • Guida L; Women & Children's Hospital of Buffalo, Buffalo, New York.
  • Kattan M; Good Samaritan Hospital, North Babylon, New York.
  • Ting A; Columbia University Medical Center, New York, New York.
  • Voter KZ; Mount Sinai School of Medicine, New York, New York.
  • Caggana M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
  • Kay DM; Applied Genomics Technologies Core, Wadsworth Center, New York State Department of Health, Albany, New York.
Hum Mutat ; 37(2): 201-8, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26538069
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Bioensaio / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Bioensaio / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article