Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient

2015 ◽  
Vol 83 (4) ◽  
pp. 354-355 ◽  
Author(s):  
Aneek Das Bhowmik ◽  
Ashwin B. Dalal ◽  
Divya Matta ◽  
C. Sundaram ◽  
Shagun Aggarwal
Keyword(s):  
Next Generation Sequencing ◽  
Muscular Dystrophy ◽  
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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