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Journal / Genetics / En robust polymerase kæde reaktions baseret…
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JoVE Journal Genetics
En robust polymerase kæde reaktions baseret analyse til kvantificering af cytosin-guanin-guanin-Trinucleotid gentages i skrøbelig X mental retardering-1 gen
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En robust polymerase kæde reaktions baseret analyse til kvantificering af cytosin-guanin-guanin-Trinucleotid gentages i skrøbelig X mental retardering-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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En nøjagtig og robust polymerase kæde reaktions baseret analyse til kvantificering af cytosin-guanin-guanin-trinucleotid gentager i den skrøbelige X mental retardering-1-gen letter Molekylær diagnose og screening af skrøbeligt X-syndrom og skrøbelige X-relaterede problemer med kortere tid og investeringer i udstyr.

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Genetik polymerase kædereaktion mikrofluidisk kapillar elektroforese cytosin-guanin-guanin-gentagelser trinucleotid skrøbelig x mental retardering-1 promotor skrøbeligt x syndrom fuld mutation premutation
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