Electrochemical Determination of Cystic Fibrosis Gene Mutation by Magnetic Beads-Based Disposable Kit-type Biosensor

2017 ◽  
Vol 164 (6) ◽  
pp. B258-B266 ◽  
Author(s):  
Dilsat Ozkan-Ariksoysal
Keyword(s):  
Cystic Fibrosis ◽  
Gene Mutation ◽  
Magnetic Beads ◽  
Electrochemical Determination ◽  
Cystic Fibrosis Gene

scholarly journals A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report

2021 ◽  
Vol 36 (2) ◽  
pp. e243-e243
Author(s):  
Said Al Balushi ◽  
Younis Al Balushi ◽  
Moza Al Busaidi ◽  
Latifa Al Mutawa
Keyword(s):  
Cystic Fibrosis ◽  
Gene Mutation ◽  
Digestive System ◽  
The Body ◽  
Cystic Fibrosis Gene ◽  
Cftr Gene ◽  
Sweat Test ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis (CF) is a genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that affects multisystems in the body, particularly the lungs and digestive system. We report a case of an Omani newborn who presented with meconium ileus and high suspicion of CF. Thus, full CFTR gene sequencing was performed, which revealed a homozygous unreported C.4242+1G>C novel gene mutation. Both parents were found to be heterozygous for this mutation. This case sheds light on the importance of the extensive genetic testing of typical CF cases in the absence of family history or during neonatal presentations, especially when the sweat test cannot be performed and the diagnosis can be challenging.

Cystic Fibrosis Gene Mutation (ΔF508) Is Associated with an Intrinsic Abnormality in Ca2+-Induced Arachidonic Acid Release by Epithelial Cells

1997 ◽  
Vol 16 (6) ◽  
pp. 749-759 ◽  
Author(s):  
LUCIO MIELE ◽  
ELEONORA CORDELLA-MIELE ◽  
MINGZHAO XING ◽  
RAYMOND FRIZZELL ◽  
ANIL B. MUKHERJEE
Keyword(s):  
Cystic Fibrosis ◽  
Arachidonic Acid ◽  
Epithelial Cells ◽  
Gene Mutation ◽  
Cystic Fibrosis Gene ◽  
Arachidonic Acid Release ◽  
Acid Release

Validation of the determination of ΔF508 mutations of the cystic fibrosis gene in over 11000 mouthwashes

1996 ◽  
Vol 97 (3) ◽  
pp. 334-336 ◽  
Author(s):  
H. G. de Vries ◽  
J. Margriet Collée ◽  
Marjan H. R. van Veldhuizen ◽  
Leny Achterhof ◽  
Cees T. Smit Sibinga ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Cystic Fibrosis Gene

Validation of the determination of ΔF508 mutations of the cystic fibrosis gene in over 11000 mouthwashes

1996 ◽  
Vol 97 (3) ◽  
pp. 334-336 ◽  
Author(s):  
Hendrik G. de Vries ◽  
J. Margriet Collée ◽  
Marjan H. R. van Veldhuizen ◽  
Leny Achterhof ◽  
Cees Th. Smit Sibinga ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Cystic Fibrosis Gene

scholarly journals Cystic Fibrosis Gene Mutation Frequency Among a Group of Suspected Children in King Hussein Medical Center

2019 ◽  
Vol 73 (2) ◽  
pp. 118
Author(s):  
Baheieh abadi ◽  
Mansour hiary ◽  
Rami Khasawneh ◽  
Asim momani ◽  
Ahmad Salameh ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Gene Mutation ◽  
Mutation Frequency ◽  
Medical Center ◽  
Cystic Fibrosis Gene

Cystic fibrosis gene mutation reduces epithelial cell acidification and injury in acid-perfused mouse duodenum

2004 ◽  
Vol 127 (4) ◽  
pp. 1162-1173 ◽  
Author(s):  
Masahiko Hirokawa ◽  
Tetsu Takeuchi ◽  
Sahaoyou Chu ◽  
Yasutada Akiba ◽  
Vincent Wu ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Epithelial Cell ◽  
Gene Mutation ◽  
Cystic Fibrosis Gene
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