Article
Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.
Molecular biology reports - 25 Apr 2024
Waheed Nadia, Waris Rehmana, Naseer Maryam, Razzaq Ayesha, Haider Nighat, Shah Abid Ali, Ullah Asmat
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) is a rare and debilitating autosomal recessive disorder. It hampers the normal function of various organs and causes severe damage to the lungs, and digestive system leading to recurring pneumonia. Cf also affects reproductive health eventually may cause infertility. The disease manifests due to genetic aberrations in the cystic fibrosis transmembrane conductance regulator (CFTR)...
Topics
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Male
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exome Sequencing
- Gastrointestinal Diseases
- Liver Diseases