Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nuc...
Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant
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Full title
Author / Creator
Kondratyeva, Elena , Bukharova, Tatyana , Efremova, Anna , Melyanovskaya, Yuliya , Bulatenko, Natalia , Davydenko, Ksenia , Filatova, Alexandra , Skoblov, Mikhail , Krasovsky, Stanislav , Petrova, Nika , Polyakov, Alexander , Adyan, Tagui , Amelina, Elena , Shadrina, Vera , Zhekaite, Elena , Zodbinova, Aysa , Chernyak, Alexander , Zinchenko, Rena , Kutsev, Sergei and Goldshtein, Dmitry
Publisher
Basel: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Basel: MDPI AG
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More information
Scope and Contents
Contents
Cystic fibrosis (CF) is the most common monogenic autosomal recessive disease, associated with pathogenic variants in the CFTR gene. The splicing variant c.3140-16T>A (3272-16T>A) has been described previously and, according to the Russian CF Patients Registry, occurs with a frequency of 0.34%. The phenotypic features of CF patients with the c.3140...
Alternative Titles
Full title
Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant
Authors, Artists and Contributors
Author / Creator
Bukharova, Tatyana
Efremova, Anna
Melyanovskaya, Yuliya
Bulatenko, Natalia
Davydenko, Ksenia
Filatova, Alexandra
Skoblov, Mikhail
Krasovsky, Stanislav
Petrova, Nika
Polyakov, Alexander
Adyan, Tagui
Amelina, Elena
Shadrina, Vera
Zhekaite, Elena
Zodbinova, Aysa
Chernyak, Alexander
Zinchenko, Rena
Kutsev, Sergei
Goldshtein, Dmitry
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8229552
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8229552
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes12060837
