Whole exome sequencing revealed a mutation in COL6A1 associated with ullrich congenital muscular dystrophy

Please use this identifier to cite or link to this item: https://dspace.ctu.edu.vn/jspui/handle/123456789/73542

Full metadata record

DC Field	Value	Language
dc.contributor.author	Dinh, Huong Thao	-
dc.contributor.author	Nguyen, Phuong Anh	-
dc.contributor.author	Miyake, Noriko	-
dc.contributor.author	Nong, Van Hai	-
dc.contributor.author	Matsumoto, Naomichi	-
dc.contributor.author	Nguyen, Thuy Duong	-
dc.date.accessioned	2022-02-08T02:48:22Z	-
dc.date.available	2022-02-08T02:48:22Z	-
dc.date.issued	2021	-
dc.identifier.issn	1811-4989	-
dc.identifier.uri	https://dspace.ctu.edu.vn/jspui/handle/123456789/73542	-
dc.description.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.	vi_VN
dc.language.iso	en	vi_VN
dc.relation.ispartofseries	Vietnam Journal of Biotechnology;No. 02 .- P.213-221	-
dc.subject	COL6A1	vi_VN
dc.subject	Sanger sequencing	vi_VN
dc.subject	UCMD	vi_VN
dc.subject	Vietnam	vi_VN
dc.subject	WES	vi_VN
dc.title	Whole exome sequencing revealed a mutation in COL6A1 associated with ullrich congenital muscular dystrophy	vi_VN
dc.type	Article	vi_VN
Appears in Collections:	Công nghệ sinh học

Files in This Item:

File	Description	Size	Format
_file_ Restricted Access		5.81 MB	Adobe PDF
Your IP: 52.14.204.52

LRC Digital repo