A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation-Reference-Cited by-同舟云学术

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A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation

Published:2010-09 Issue:9 Volume:12 Page:548-555
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Lucarelli Marco,Narzi Lorena,Pierandrei Silvia,Bruno Sabina Maria,Stamato Antonella,D'Avanzo Miriam,Strom Roberto,Quattrucci Serena

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference58 articles.

Cited by 41 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis;Biomedicines;2024-06-09

2. Advances in the Study of Common and Rare CFTR Complex Alleles Using Intestinal Organoids;Journal of Personalized Medicine;2024-01-23

3. 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

4. CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24;International Journal of Molecular Sciences;2023-03-08

5. ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria;Journal of Cystic Fibrosis;2022-11

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