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The rapid molecular genetic diagnosis of cystic fibrosis by polymerase chain reaction: an experience report.
Macek, M; Boehm, I; Arnold, L; Smrt, J; Macek, M; Duspivová, R; Vávrová, V; Sedlácek, Z; Sperling, K; Schmidtke, J.
Afiliación
  • Macek M; Department of Clinical Biochemistry, 1st Faculty of Medicine, Charles University, Prague, Czechoslovakia.
Czech Med ; 13(4): 145-59, 1990.
Article en En | MEDLINE | ID: mdl-1981984
ABSTRACT
The authors report their experience with about two thousand DNA amplifications by polymerase chain reaction (PCR) in prenatal diagnosis of cystic fibrosis. The method is demonstrated on examples of diagnostic informativity and prenatal diagnosis examination in a family at 1 in 4 risk of the disease using closely CF-linked diagnostic polymorphisms J3.11/MspI, MetH/MspI, CS7/HhaI, KM19/PstI, Mp6-d9/MspI and XV2c/TaqI, PCR methodology and safety precautions are discussed.
Asunto(s)
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Fibrosis Quística / Enfermedades Fetales Tipo de estudio: Diagnostic_studies / Etiology_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Czech Med Año: 1990 Tipo del documento: Article Pais de publicación: CZ / CZECH REPUBLIC / REPUBLICA CHECA / REPÚBLICA TCHECA
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Fibrosis Quística / Enfermedades Fetales Tipo de estudio: Diagnostic_studies / Etiology_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Czech Med Año: 1990 Tipo del documento: Article Pais de publicación: CZ / CZECH REPUBLIC / REPUBLICA CHECA / REPÚBLICA TCHECA