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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Κύριοι συγγραφείς:	Run Guo, Yingxue Zou, Yongsheng Guo, Weiwei Gao
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	BMC 2024-08-01
Σειρά:	Diagnostic Pathology
Θέματα:	Cystic fibrosis CFTR variants Whole exome sequencing (WES) Compound heterozygous Chinese population Case report
Διαθέσιμο Online:	https://doi.org/10.1186/s13000-024-01531-z
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