Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping

PURPOSE: To explore the feasibility of performing rapid prenatal diagnoses of FSHD1 using a combination of Bianano optical mapping and linkage‐based karyomapping. METHODS: DNA specimens from a family that had been previously diagnosed with FSHD1 using Southern Blot analysis were used for this study....

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Detalles Bibliográficos
Autores principales: Zheng, Yuting, Kong, Lingrong, Xu, Hui, Lu, Yongjie, Zhao, Xuechao, Yang, Yuxia, Yu, Guoliang, li, Pidong, Liang, Fan, Jin, Hongshuai, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065173/
https://www.ncbi.nlm.nih.gov/pubmed/31711258
http://dx.doi.org/10.1002/pd.5607

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