Associated Papers
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants_by_legacy_name
Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.
Almaghamsi T et al.
Saudi Medical Journal, 2023
CFTR heterozygosity in severe asthma with recurrent airway infections: a retrospective review.
Priel E et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2022
Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.
Gajbhiye R et al.
The Indian Journal of Medical Research, 2016
A novel nonsynonymous variant of matrix metalloproteinase-7 confers risk of liver cirrhosis.
Hung TM et al.
Hepatology (baltimore, Md.), 2009
CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.
Zielenski J et al.
Methods in Molecular Medicine, 2002
Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease.
Liechti-Gallati S et al.
European Journal of Human Genetics : Ejhg, 1999
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.
Culard JF et al.
Human Genetics, 1994
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