Article
Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion.
Journal of human genetics - 1 Mar 2021
Duz Mehmet Bugrahan, Ozyavuz Cubuk Pelin
Abstract excerpt
Cystic fibrosis is a hereditary disease that mostly affects the sweat glands, respiratory system, digestive system, and reproductive system. Many and various types of mutations have been reported in CFTR in different ethnicities and countries/regions. Analysis of CFTR gene rearrangements is recommended in patients with unidentified mutated alleles in CFTR sequencing analysis. We collected MLPA analyses of 527...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exons
- Female
- Genotype
- Humans
- Incidence
- Male
- Male Urogenital Diseases
- Middle Aged
- Multiplex Polymerase Chain Reaction
- Real-Time Polymerase Chain Reaction
- Retrospective Studies
- Sequence Deletion