Anchored multiplex PCR enables sensitive NGS-based mutation detection in the context of large primer panels

Author(s):  
Josh Haimes
2000 ◽  
Vol 83 (02) ◽  
pp. 244-247 ◽  
Author(s):  
J. M. Costa ◽  
P. Ernault ◽  
D. Vidaud ◽  
M. Vidaud ◽  
D. Meyer ◽  
...  

SummaryA method using multiplex PCR followed by cycle-sequencing has been developed to detect mutations in the FIX gene. The procedure was evaluated in 45 severe or mild haemophilia B patients from 45 unrelated families. At least one deleterious mutation was identified in every haemophiliac demonstrating the efficiency of the method. Furthermore the described procedure offers many advantages compared to other screening detection methods: it is fast (less than 48 h), simple (partly automated) and of relatively low cost (it requires only one PCR).


2012 ◽  
Vol 22 (5) ◽  
pp. 619-624 ◽  
Author(s):  
Marco Perizzolo ◽  
Bob Winkfein ◽  
Susan Hui ◽  
Wally Krulicki ◽  
Jennifer A. Chan ◽  
...  

1998 ◽  
Vol 4 (2) ◽  
pp. 135 ◽  
Author(s):  
Xin Zhao ◽  
Yu-Yang Cai ◽  
Da-Wen Xie ◽  
Li-Dong Wang ◽  
Chung S Yang

1999 ◽  
Vol 30 (4) ◽  
pp. 322-323 ◽  
Author(s):  
A. Barroso ◽  
S. Dunner ◽  
J. Ca·ón
Keyword(s):  

2005 ◽  
Vol 127 (03) ◽  
Author(s):  
J Rom ◽  
A Schneeeweiss ◽  
V Zieglschmid ◽  
C Hollmann ◽  
O Böcher ◽  
...  
Keyword(s):  

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