Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1186/s13000-024-01531-z.pdf
Reference15 articles.
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2. O’Sullivan BP, Freedman SD. Cystic fibrosis. Lancet (London England). 2009;373(9678):1891–904.
3. Ni Q, Chen X, Zhang P, Yang L, Lu Y, Xiao F, et al. Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to caucasians. Orphanet J Rare Dis. 2022;17(1):129.
4. Tosco A, Castaldo A, Colombo C, Claut L, Carnovale V, Iacotucci P, et al. Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype. J Cyst Fibros. 2022;21(5):850–5.
5. Tosco A, Carnovale V, Claut L, Fabrizzi B, Majo F, Castellani C, et al. Clinical outcome of individuals carrying 5T;TG12 in trans with CFTR variants with varying clinical consequences. Pediatr Pulmonol. 2023;58(4):1253–5.
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