Please use this identifier to cite or link to this item: https://dspace.ctu.edu.vn/jspui/handle/123456789/73542
Title: Whole exome sequencing revealed a mutation in COL6A1 associated with ullrich congenital muscular dystrophy
Authors: Dinh, Huong Thao
Nguyen, Phuong Anh
Miyake, Noriko
Nong, Van Hai
Matsumoto, Naomichi
Nguyen, Thuy Duong
Keywords: COL6A1
Sanger sequencing
UCMD
Vietnam
WES
Issue Date: 2021
Series/Report no.: Vietnam Journal of Biotechnology;No. 02 .- P.213-221
Abstract: This study expands the breadth of congenital muscular dystrophies research landcape and underscores the efficiency of WES in investigating the etiology of this group of heterogeneous diseases. Insight about the underlying genetic causes could contribute to develop a well-timed treatment regimen and help patients make an informed decision about reproductive health.
URI: https://dspace.ctu.edu.vn/jspui/handle/123456789/73542
ISSN: 1811-4989
Appears in Collections:Công nghệ sinh học

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