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

• Príomhchruthaitheoirí: Run Guo (Údar), Yingxue Zou (Údar), Yongsheng Guo (Údar), Weiwei Gao (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2024-08-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

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 >...