Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing

2017 ◽  
Vol 27 (1) ◽  
pp. e39
Author(s):  
R. Spina ◽  
A.B. Cefalu' ◽  
D. Noto ◽  
V. Ingrassia ◽  
V. Valenti ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Nonsense Mutation ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Severe Hypertriglyceridemia ◽  
Generation Sequencing

scholarly journals Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis

Medicine ◽  
2018 ◽  
Vol 97 (3) ◽  
pp. e9677 ◽  
Author(s):  
Soyoung Shin ◽  
Woori Jang ◽  
Myungshin Kim ◽  
Yonggoo Kim ◽  
Suk Young Park ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Nonsense Mutation ◽  
Hereditary Spherocytosis ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene

2014 ◽  
Vol 436 ◽  
pp. 155-159 ◽  
Author(s):  
Emma Tabe Eko Niba ◽  
Van Khanh Tran ◽  
Le Anh Tuan-Pham ◽  
Dung Chi Vu ◽  
Ngoc Khanh Nguyen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Nonsense Mutation ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Dmd Gene ◽  
Generation Sequencing
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