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Journal / Genetics / Ein robuster Polymerase-Kettenreaktions-basierter …
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JoVE Journal Genetics
Ein robuster Polymerase-Kettenreaktions-basierter Assay zur Quantifizierung von Cytosin-Guanin-Guanin-Trinukleotid-Wiederholungen in fragilen X Mental Retardation-1 Gen
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Ein robuster Polymerase-Kettenreaktions-basierter Assay zur Quantifizierung von Cytosin-Guanin-Guanin-Trinukleotid-Wiederholungen in fragilen X Mental Retardation-1 Gen

Article DOI: 10.3791/59963-v • 08:22 min • September 16th, 2019
September 16th, 2019 •
*1, *2,3, *3,4, 2, 2,3, 2,3, 2, 5, 5, 6,7, 2,3
1Central Laboratory, Bao'an Maternity and Child Health Hospital, Jinan University, 2Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, 3Shenzhen Research Institute, The Chinese University of Hong Kong, 4Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, 5PerkinElmer Diagnostics, 6Department of Obstetrics and Gynecology, Bao'an Maternity and Child Health Hospital, Jinan University, 7Maternal-Fetal Medicine Institute, Bao'an Maternity and Child Health Hospital, Jinan University
* These authors contributed equally

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Ein genauer und robuster, auf Polymerasekettenreaktion basierender Assay zur Quantifizierung von Cytosin-Guanin-Guanin-Trinukleotid-Wiederholungen im Fragile X-Gen für geistige Retardierung-1 erleichtert die molekulare Diagnose und das Screening des Fragile X-Syndroms und des fragilen X-bezogenen Störungen mit kürzerer Umschaltzeit und Investitionen in Ausrüstung.

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Genetik Ausgabe 151 Polymerase-Kettenreaktion mikrofluidische Kapillarelektrophorese Cytosin-Guanin-Guanin-Wiederholungen Trinukleotid Fragile X mentale Retardierung-1 Promotor fragiles X-Syndrom volle Mutation Prämutation
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