Accès ouvert
2023
article
OpenAlex
Olga Shchagina, Elena Gracheva, Alyona L. Chukhrova, E. A. Bliznets et autres
Variants that affect splice sites comprise 14.3% of all pathogenic variants in the SERPING1 gene; more than half of them are located outside the canonical sites. To make a clinical decision concerning patients with such variants, it is essential to know the …
ru
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2020
article
OpenAlex
M.R. Lalayants, О. Л. Миронович, E. A. Bliznets, Т Г Маркова et autres
) gene mutations are the most common cause of hereditary ANSD according to investigations in several countries. THE AIM: -related ANSD. PATIENTS AND METHODS: ). RESULTS: mutations, including 6 new variants, were found in 5 children with ANSD (18%). All 5 children …
ru
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Accès ouvert
2020
article
OpenAlex
Ekaterina Grigoreva, E. A. Ivanova, Т Г Маркова, S S Chibisova et autres
To study the prevalence of mutations in the GJB2 gene in deaf and deaf children in the Astrakhan region and compare them with the frequency of mutations in children with hearing impairment living in other regions of the Russian Federation taking into …
ru
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Accès ouvert
2016
article
OpenAlex
А. N. Semyachkina, E. A. Bliznets, V. Yu. Voinova, S. V. Bochenkov et autres
The paper deals with a rare monogenic connective tissue disease from a group of fibrillinopathies with autosomal dominant inheritance — Beals syndrome caused by a mutation in the FBN2 gene. Attention is drawn to the high phenotypic similarity of this disease and …
ru
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