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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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6. Marshall B., Faro A., Elbert A., Fink A., Sewall A. [et al.]. Cystic Fibrosis Foundation Patient Registry Annual Data Report 2018. Available at: https://www.cff.org/Research/Researcher-Resources/Patient-Registry/2018-Patient-Registry-Annual-Data-Report.pdf. Accessed August
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