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 |
Files in This Item:
File | Description | Size | Format | |
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_file_ Restricted Access | 5.81 MB | Adobe PDF | ||
Your IP: 3.137.176.238 |
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