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Current Issues in Pharmacy and Medical Sciences
Volume 31 (2018): Issue 4 (December 2018)
Open Access
Developing a diagnostic test to identify the selected mutation within the CFTR gene that determines the onset of cystic fibrosis
Angelika Szymczak
Angelika Szymczak
,
Piotr Ksiazek
Piotr Ksiazek
,
Sylwia Mojsym-Korybska
Sylwia Mojsym-Korybska
,
Wojciech Skorupa
Wojciech Skorupa
and
Albertyna Zbikowska-Machul
Albertyna Zbikowska-Machul
| Jan 03, 2019
Current Issues in Pharmacy and Medical Sciences
Volume 31 (2018): Issue 4 (December 2018)
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Published Online:
Jan 03, 2019
Page range:
200 - 203
Received:
Mar 14, 2018
Accepted:
May 24, 2018
DOI:
https://doi.org/10.1515/cipms-2018-0037
Keywords
CF – cystic fibrosis
,
CFTR – cystic fibrosis transmembrane conductance regulator
,
EnaC – epithlial sodium channel
,
ROMK – renal outermedullary potassium channel
,
ORCC – outwardly rectifying chloride channel
,
CBAVD – congenital bilateral absence of the vas deferent
,
WHO – World Health Organization
,
ECFTN – European Cystic Fibrosis Society
,
PCR – polymerase chain reaction
© 2018 Angelika Szymczak et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.