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of the North Caucasus
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ISSN 2073-8137

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Phenotypic manifestations of four newly identified mutations of the CFTR gene

[Cystic fibrosis]
Anastasia Vasilievna Goryainova; Stanislav Aleksandrovich Krasovsky; Sergey Yurievich Semykin; Andrey Evgenievich Donnikov;

The paper presents the clinical characteristics and description of phenotype of children with cystic fibrosis, as well as new genetic variants in the CFTR gene, identified as a result of NGS sequencing.


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3, 2019.

Keywords: cystic fibrosis, CFTR mutations, gene sequencing, targeted therapy

Stavropol State Medical Academy
Pyatigorsk State Research Institute of Balneotherapeutics
Pyatigorsk State Pharmaceutical Academy