A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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1. The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy;International Journal of Molecular Sciences;2023-12-21
2. Targeted locus amplification reveals heterogeneity between and within CFTR genotypes and association with CFTR function in patient-derived intestinal organoids;Journal of Cystic Fibrosis;2023-05
3. Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del];Current Issues in Molecular Biology;2022-10-21
4. Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy;International Journal of Molecular Sciences;2022-09-08
5. Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis;Journal of Cystic Fibrosis;2022-07
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