Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis

Abstract Cystic fibrosis (CF) is an autosomal recessive inherited disease caused by variants of cystic fibrosis transmembrane conductance regulation (CFTR) gene. This report presents a case of a Chinese boy diagnosed with CF, attributed to the presence of two specific CFTR gene variations: 4056G > C...

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Prif Awduron:	Run Guo, Yingxue Zou, Yongsheng Guo, Weiwei Gao
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	BMC 2024-08-01
Cyfres:	Diagnostic Pathology
Pynciau:	Cystic fibrosis CFTR variants Whole exome sequencing (WES) Compound heterozygous Chinese population Case report
Mynediad Ar-lein:	https://doi.org/10.1186/s13000-024-01531-z
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!