P026 The DNA analysis of cystic fibrosis patients in the Russian Federation according to the National Patient Registry 2011–2021

N Kashirskaya ,I Kuzmicheva,E Tukhkanen,D Moskvina,E Gabitova,M Piskun,M Skachkova,M Shakhgireeva,E Kolomatzkaya,T Korneeva,A Dyachkova,O Kondratenko,Л П Назаренко ,О А Щагина ,E Amelina ,M Starinova ,Yu.l Melianovskaya ,A V Lyamin ,S A Petukhova ,А Н Удалова ,Diana Petrova ,С И Куцев ,S Krasovsky ,Е Б Павлинова ,Р А Зинченко ,V Kovalskaya ,T Adyan ,Н В Петрова ,В Д Шерман ,В М Козлова ,М А Борисова ,E Tyumentseva ,О А Пономарева ,И А Кузнецова ,A Voronkova ,O S Psyurnikova ,A V Polyakov ,Е А Лапшина ,E Ginter ,E.i Kondratyeva

doi:10.1016/s1569-1993(23)00402-2

P026 The DNA analysis of cystic fibrosis patients in the Russian Federation according to the National Patient Registry 2011–2021

N Kashirskaya , I Kuzmicheva + Show 38 more

https://doi.org/10.1016/s1569-1993(23)00402-2

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Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Publication Date: Jun 1, 2023

Affiliation: Research Centre for Medical Genetics

#Cystic Fibrosis Patients #Russian Federation + Show 8 more

Abstract
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Abstract

Objectives: Russian Cystic Fibrosis Patient Registry (RCFPR) analysis is a tool to assess the status of DNA diagnosis, characterise new pathogenic variants of the CFTR gene, plan DNA screening measures and prescribe targeted therapies. Aim - to analyze the allelic frequency of CFTR gene variants in the Russian Federation and the status of molecular diagnostics over 11 years.

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