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Clinical and Functional Characteristics of the E92K ICFTR/I Gene Variant in the Russian and Turkish...

Clinical and Functional Characteristics of the E92K ICFTR/I Gene Variant in the Russian and Turkish...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A751927364

Clinical and Functional Characteristics of the E92K ICFTR/I Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis

About this item

Full title

Clinical and Functional Characteristics of the E92K ICFTR/I Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis

Publisher

MDPI AG

Journal title

International journal of molecular sciences, 2023-03, Vol.24 (7)

Language

English

Formats

Publication information

Publisher

MDPI AG

Subjects

More information

Scope and Contents

Contents

The pathogenic variant E92K (c.274G > A) of the CFTR gene is rare in America and Europe, but it is common for people with cystic fibrosis from Russia and Turkey. We studied the effect of the E92K genetic variant on the CFTR function. The function of the CFTR channel was studied using the intestinal current measurements (ICM) method. The effects of...

Alternative Titles

Full title

Clinical and Functional Characteristics of the E92K ICFTR/I Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_gale_infotracmisc_A751927364

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A751927364

Other Identifiers

ISSN

1422-0067

DOI

10.3390/ijms24076351

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