scholarly journals MALDI-TOF mass spectrometry-based assay for CFTR gene mutation analysis in cystic fibrosis newborn screening programs

2009 ◽  
Vol 8 ◽  
pp. S3 ◽  
Author(s):  
P. Raña-Díez ◽  
C. Colón ◽  
J.R. Alonso-Fernández ◽  
J.M. Fraga ◽  
A. Carracedo ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Gene Mutation ◽  
Mutation Analysis ◽  
Cftr Gene ◽  
Screening Programs ◽  
Maldi Tof Mass Spectrometry ◽  
Maldi Tof ◽  
Gene Mutation Analysis

scholarly journals Clinical features of a cystic fibrosis patient chronically colonized with Pandoraea pnomenusa identified using MALDI-TOF mass spectrometry

2010 ◽  
Vol 9 ◽  
pp. S121
Author(s):  
A. Fernandez-Olmos ◽  
M.I. Morosini ◽  
M. García-Castillo ◽  
L. García-García ◽  
A. Lamas ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Cystic Fibrosis ◽  
Cystic Fibrosis Patient ◽  
Clinical Features ◽  
Maldi Tof Mass Spectrometry ◽  
Maldi Tof

scholarly journals Diagnostic Testing by CFTR Gene Mutation Analysis in a Large Group of Hispanics

2005 ◽  
Vol 7 (2) ◽  
pp. 289-299 ◽  
Author(s):  
Iris Schrijver ◽  
Sudha Ramalingam ◽  
Ramalingam Sankaran ◽  
Steve Swanson ◽  
Charles L.M. Dunlop ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Diagnostic Testing ◽  
Cftr Gene ◽  
Large Group ◽  
Gene Mutation Analysis

scholarly journals Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: Evidence that 3199del6 is a disease-causing mutation

2004 ◽  
Vol 6 (5) ◽  
pp. 426-430 ◽  
Author(s):  
Inge M Buyse ◽  
Sarah E McCarthy ◽  
Paul Lurix ◽  
Robert P Pace ◽  
David Vo ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Cystic Fibrosis ◽  
Maldi Tof Mass Spectrometry ◽  
Maldi Tof
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