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

• Principais autores: Yulia V. Gorinova (Autor), Kirill V. Savostyanov (Autor), Alexandr A. Pushkov (Autor), Alexey G. Nikitin (Autor), Evgeniy L. Pen'kov (Autor), Stanislav A. Krasovskiy (Autor), Olga I. Simonova (Autor), L. S. Namazova-Baranova (Autor)
• Formato: Livro
• Publicado em: "Paediatrician" Publishers LLC, 2018-04-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...