Cystic Fibrosis Polymorphic Variants in a Russian Population.

Anna Vitalievna KiselevaMarina KlimushinaEvgeniia Andreevna SotnikovaOlga SkirkoMikhail DivashukOlga KurilovaAlexandra Igorevna Ershova Eleonora Yu KhlebusAnastasia ZharikovaIrina EfimovaMaria PokrovskayaPetr A SlominskySvetlana ShalnovaAlexey Nikolaevich MeshkovOxana Drapkina

Published in: Pharmacogenomics and personalized medicine (2020)

High frequency of heterozygous CFTR variants carriers and availability of highly productive diagnostic panel for detection of CFTR variants suggest the prospect of carrier screening for some common CF variants among Russian population.

Keyphrases

cystic fibrosis
high frequency
copy number
pseudomonas aeruginosa
lung function
transcranial magnetic stimulation
early onset
chronic obstructive pulmonary disease
sensitive detection
quantum dots