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Novel mutation c.1210-3C>G in with a poly-T tract of 5T affects mRNA splicing in a Chinese patient with cystic fibrosis

Frontiers of Medicine 2022, Volume 16, Issue 1,   Pages 150-155 doi: 10.1007/s11684-021-0846-5

Abstract: recessive disease with only one pathogenic gene cystic fibrosis transmembrane conductance regulator (CFTRsequencing on the genomic DNA of the patient and his parents and detected all 27 coding exons of CFTRidentified pathogenic mutation in our patient, in combination with T5 sequence in cis, affects the CFTR

Keywords： cystic fibrosis     CFTR     splicing mutation     minigene    

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Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis

Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou

Frontiers of Medicine 2018, Volume 12, Issue 5,   Pages 550-558 doi: 10.1007/s11684-017-0567-y

Abstract: fatal autosomal-recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTRThe compound heterozygous mutations of the CFTR gene were detected in two infants, and a homozygousFurthermore, our findings expand the CFTR mutation spectrum associated with CF.

Keywords： cystic fibrosis     pseudo-Bartter syndrome     hypokalemic alkalosis     CFTR gene     mutations     infants     diagnosis    

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Title Author Date Type Operation

Novel mutation c.1210-3C>G in with a poly-T tract of 5T affects mRNA splicing in a Chinese patient with cystic fibrosis

Journal Article

Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis

Liru Qiu, Fengjie Yang, Yonghua He, Huiqing Yuan, Jianhua Zhou

Journal Article