Article

Case Report of a Chinese Cystic Fibrosis Boy with thec.1521_1523delCTT/c.3874-4522A>G Genotypes

2022-05-19

Abstract excerpt

This report entails a case of an 11-year-old Chinese boy with cystic fibrosis (CF), who bears the c.1521_1523delCTT/c.3874-4522A>G genotype, which is extremely rare in Chinese population. Notably, the deep intron mutation c.3874-4522A>G was the first time identified among Chinese patients, which was reported mainly associated with mild phenotype. It is generally considered that a mild allele sustains CFTR functio...

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Literature Corpus work: c46a97cd-af1a-550e-8637-c0c773e097ee
DOI: 10.22541/au.165294212.26145229/v1

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