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Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.

Saudi Med J

October 2023

From the Department of Pediatrics (Almaghamsi, Ba Attiyah, Bahasan), King Faisal Specialist Hospital and Research Center; from the Department of Pathology (Hanbazazh), Faculty of Medicine, University of Jeddah; from the Department of Medical Genetics (Zakariyah), Faculty of Medicine, University of Jeddah; from the Research Center (AlAnezi, Hawsawi), King Faisal Specialist Hospital and Research, Jeddah; from the Department of Clinical Laboratory Sciences (Alotaibi), College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences; from the Department of Clinical Laboratory Sciences (Alotaibi), King Abdullah International Medical Research Center; from the College of Medicine (Saleem, Hawsawi), Al-Faisal University, Riyadh; from the Pharmacy Department (AlAhmadi), Muhammed Saleh Basharhil Hospital, Makkah, Kingdom of Saudi Arabia.

Objectives: To investigate the geographic distribution of common cystic fibrosis (CF) variants in the western and southern regions of Saudi Arabia.

Methods: A retrospective study was conducted on 69 patients diagnosed with CF at King Faisal Specialist Hospital & Research Center, Jeddah. Patient data were collected retrospectively between June 2000 and November 2021.

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