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Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis.

Gene - 20 May 2024

Sun Jingyi, Hua Li, He Yafang, Liu Haipei, Liu Quanhua, Chen Mengxue, Li Jing, Ye Jianmin, Fang Dingzhu, Ji Ruoxu, Chen Yi, Yang Chao, Zhang Jianhua

Abstract excerpt

OBJECTIVES: To describe the clinical characteristics of Chinese cystic fibrosis (CF) patients and to investigate the variants of CFTR and their potential pathogenicity. STUDY DESIGN: Chinese patients with potential CF diagnosis were studied. Clinical data were reviewed retrospectively from medical records. Whole exome sequencing and genetic evaluation were conducted to explore potential gene variants. The...

Topics

Child
Infant, Newborn
Humans
Cystic Fibrosis Transmembrane Conductance Regulator
Cystic Fibrosis
Retrospective Studies
Frameshift Mutation
China
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38246579
DOI: 10.1016/j.gene.2024.148190

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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