Prenatal diagnosis for CF using High Resolution Melting Analysis and simultaneous haplotype analysis through QF-PCR.

Poulou, Myrto; Destouni, Aspasia; Kakourou, Georgia; Kanavakis, Emmanuel; Tzetis, Maria

Poulou, Myrto; Destouni, Aspasia; Kakourou, Georgia; Kanavakis, Emmanuel; Tzetis, Maria.

Afiliación

Poulou M; Department of Medical Genetics, Athens University, St Sophia's Children's Hospital, Athens 11527, Greece. Electronic address: mrpoulou@med.uoa.gr.
Destouni A; Department of Medical Genetics, Athens University, St Sophia's Children's Hospital, Athens 11527, Greece; Research Institute for the Study of Genetic and Malignant Disorders in Childhood, St. Sophia's Children's Hospital, Athens 11527, Greece.
Kakourou G; Department of Medical Genetics, Athens University, St Sophia's Children's Hospital, Athens 11527, Greece.
Kanavakis E; Department of Medical Genetics, Athens University, St Sophia's Children's Hospital, Athens 11527, Greece; Research Institute for the Study of Genetic and Malignant Disorders in Childhood, St. Sophia's Children's Hospital, Athens 11527, Greece.
Tzetis M; Department of Medical Genetics, Athens University, St Sophia's Children's Hospital, Athens 11527, Greece.

J Cyst Fibros ; 13(6): 617-22, 2014 Dec.

Article en En | MEDLINE | ID: mdl-24784896

Asunto(s)

Fibrosis Quística/diagnóstico; Pruebas Genéticas; Técnicas de Genotipaje/métodos; Reacción en Cadena de la Polimerasa/métodos; Diagnóstico Prenatal; Fibrosis Quística/genética; Femenino; Haplotipos/genética; Humanos; Embarazo; Reproducibilidad de los Resultados; Estudios Retrospectivos; Sensibilidad y Especificidad

Palabras clave

Cystic fibrosis; Haplotype analysis; High Resolution Melting; Mutation detection; Prenatal diagnosis; QF-PCR

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Pruebas Genéticas / Reacción en Cadena de la Polimerasa / Fibrosis Quística / Técnicas de Genotipaje Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: J Cyst Fibros Año: 2014 Tipo del documento: Article

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