Article

A Chinese Pediatric cystic fibrosis patient with the c.1624G>T, p. Gly542x / c.223C>T, p. Arg75x genotype

2023-06-12

Abstract excerpt

In conclusion, we present this case in order to complement CFTR gene mutations data of Chinese children with cystic fibrosis and improve clinicians' understanding of this disease in China. Besides, with the development of molecular biology technology, gene detection was expected to play an important role in the early diagnosis, early treatment, and prognosis improvement of the disease.

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Literature Corpus work: 1c33a3e6-b454-5961-9b83-6994458a72ee
DOI: 10.22541/au.168658384.43204517/v1

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