GENOTYPE-PHENOTYPE CORRELATIONS OF THE COURSE OF CYSTIC FIBROSIS IN RUSSIAN CHILDREN. THE FIRST DESCRIPTION OF ELEVEN NEW MUTATIONS

GENOTYPE-PHENOTYPE CORRELATIONS OF THE COURSE OF CYSTIC FIBROSIS IN RUSSIAN CHILDREN. THE FIRST DESCRIPTION OF ELEVEN NEW MUTATIONS

Background. Cystic fibrosis is a hereditary disease that occurs as a result of mutations in the regulator gene of chloride ion transmembrane transport (CFTR). Finding mutations in the CFTR gene is necessary for identification of the clinical features of cystic fibrosis.Objective. Our aim was to iden...

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Main Authors: Yulia V. Gorinova, Kirill V. Savostyanov, Alexandr A. Pushkov, Alexey G. Nikitin, Evgeniy L. Pen’kov, Stanislav A. Krasovskiy, Olga I. Simonova, L. S. Namazova-Baranova
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2018-04-01
Series:Вопросы современной педиатрии
Subjects:
children
cystic fibrosis
cftr gene
new mutations
next-generation sequencing
phenotype
genotype
correlations
Online Access:https://vsp.spr-journal.ru/jour/article/view/1866
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