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

2020-01-17

Abstract excerpt

<title>Abstract</title> <p>Purpose To identify potential pathogenic mutations in a Chinese patient with cystic fibrosis (CF) and subsequently study its splicing effect on cystic fibrosis transmembrane conductance regulator (CFTR) mRNA in vitro. Methods Genomic DNA was extracted from peripheral blood leukocytes of the patient and his parents. To detect the possible pathogenic mutations in this patient, Sanger sequ...

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Literature Corpus work
8d41bf18-758a-534a-8bfa-5d0c67f000a5
DOI
10.21203/rs.2.21192/v1
Open publication

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