Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy

2018 ◽  
Vol 66 (6) ◽  
pp. 1812
Author(s):  
Ashwin Dala ◽  
AneekDas Bhowmik ◽  
Karthik Tallapaka ◽  
Megha Uppin ◽  
Challa Sundaram
Keyword(s):  
Next Generation Sequencing ◽  
Muscular Dystrophy ◽  
Splice Site ◽  
Congenital Muscular Dystrophy ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

PLoS ONE ◽  
2013 ◽  
Vol 8 (1) ◽  
pp. e53083 ◽  
Author(s):  
C. Alexander Valencia ◽  
Arunkanth Ankala ◽  
Devin Rhodenizer ◽  
Shruti Bhide ◽  
Martin Robert Littlejohn ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Muscular Dystrophy ◽  
Mutation Analysis ◽  
Congenital Muscular Dystrophy ◽  
Next Generation ◽  
Generation Sequencing
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