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JoVE Journal Genetics
Een robuuste polymerase kettingreactie op basis van Cytosine-guanine-guanine Trinucleotide herhalingen in fragiele X mentale retardatie-1 gen
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Een robuuste polymerase kettingreactie op basis van Cytosine-guanine-guanine Trinucleotide herhalingen in fragiele X mentale retardatie-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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Een nauwkeurige en robuuste polymerase kettinggebaseerde assay test voor het kwantificeren van Cytosine-guanine-guanine trinucleotide herhalingen in het fragiele X mentale retardatie-1 gen vergemakkelijkt de moleculaire diagnose en screening van fragiel X-syndroom en fragiele X-gerelateerde aandoeningen met kortere turn-around tijd en investering in apparatuur.

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Genetica uitgave 151 polymerase kettingreactie microfluïdische capillaire elektroforese cytosine-guanine-guanine herhalingen trinucleotide fragiele X mentale retardatie-1 promotor fragiel X-syndroom volledige mutatie premutatie
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