Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients-Reference-Cited by-同舟云学术

Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients

Published:2019-01 Issue:1 Volume:21 Page:70-80
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Kerschner Jenny L.,Ghosh Sujana,Paranjapye Alekh,Cosme Wilmel R.,Audrézet Marie-Pierre,Nakakuki Miyuki,Ishiguro Hiroshi,Férec Claude,Rommens Johanna^ORCID,Harris Ann

Funder

Cystic Fibrosis Foundation

NIH

Genome Canada

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

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1. Tissue-Specific Regulation of CFTR Gene Expression;International Journal of Molecular Sciences;2023-06-26

2. Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype‐resolved long‐read next generation sequencing;Human Mutation;2022-04-07

3. Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusive CFTR genetics and sweat test;BMJ Open Respiratory Research;2020-10

4. Cystic Fibrosis, CFTR, and Colorectal Cancer;International Journal of Molecular Sciences;2020-04-21

5. The influence of CFTR complex alleles on precision therapy of cystic fibrosis;Journal of Cystic Fibrosis;2020-03