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Journal / Genetics / Un ensayo robusto basado en la reacción en cadena …
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Genetics

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JoVE Journal Genetics
Un ensayo robusto basado en la reacción en cadena de la polimerasa para cuantificar las repeticiones de trinucleótido de citosina-guanina-guanina en el gen frágil X mental retardado-1
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Un ensayo robusto basado en la reacción en cadena de la polimerasa para cuantificar las repeticiones de trinucleótido de citosina-guanina-guanina en el gen frágil X mental retardado-1

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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Un ensayo preciso y robusto basado en la reacción en cadena de la polimerasa para cuantificar las repeticiones de trinucleótido de citosina-guanina-guanina en el gen frágil X de retraso mental-1 facilita el diagnóstico molecular y el cribado del síndrome de X frágil y las repeticiones X frágiles trastornos con menor tiempo de respuesta e inversión en equipos.

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Genética Número 151 Reacción en cadena de la polimerasa electroforesis capilar microfluídica repeticiones de citosina-guanina-guanina trinucleótido retardación mental X frágil-1 promotor síndrome X frágil mutación completa premutación
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