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Ошибки: Клинические и молекулярно-генетические характеристики пациентов с нарушением формирования пола 46,XY, обусловленным мутациями в гене NR5A1. [Проблемы эндокринологии 2020;66(3):62-69. doi: 10.14341/probl12445]
n the article some corrections were needed. Abstract: “Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 15 were not previously described”. has been corrected to read “Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 22 were not prev...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Endocrinology Research Centre
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9112850/ https://www.ncbi.nlm.nih.gov/pubmed/35018768 http://dx.doi.org/10.14341/probl12848 |
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author | Калинченко, Н. Ю. Колодкина, А. А. Райгородская, Н. Ю. Тюльпаков, А. Н. |
author_facet | Калинченко, Н. Ю. Колодкина, А. А. Райгородская, Н. Ю. Тюльпаков, А. Н. |
author_sort | Калинченко, Н. Ю. |
collection | PubMed |
description | n the article some corrections were needed. Abstract: “Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 15 were not previously described”. has been corrected to read “Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 22 were not previously described”. Results: “Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 15 were not previously described”, has been corrected to read “Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 22 were not previously described”. Among the newly identified variants in the NR1A1 gene, two lead to the premature stop codon -p. Y197X and p. Y25X, two lead to a shift in the reading frame-p. N385fs and p. L245fs, which does not allow us to doubt their pathogenicityAmong the previously undescribed variant changes, 5 missense mutations (p. C283Y, p. C283B, p.H24Q, p.M126K, p.E81K) and 1 synonymous substitution affecting the splicing site (E330E) were evaluated as pathogenic, and 5 others as probably pathogenic. Has been corrected to read: Among the newly identified variants in the NR1A1 gene, two lead to the premature stop codon -p. Y197X and p. Y25X, two lead to a shift in the reading frame — p.N385SfsX10 and p.L245AfsX53, which does not allow us to doubt their pathogenicity Among the previously undescribed variants, 5 missense mutations (p.C283Y, p.С283F, p.H24Q, p.M126K, p.A82T) and 1 synonymous substitution affecting the splicing site (E330E) were predicted as pathogenic, and 5 others as probably pathogenic by calculating pathogenicity. The authors apologize for these errors. |
format | Online Article Text |
id | pubmed-9112850 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Endocrinology Research Centre |
record_format | MEDLINE/PubMed |
spelling | pubmed-91128502022-12-16 Ошибки: Клинические и молекулярно-генетические характеристики пациентов с нарушением формирования пола 46,XY, обусловленным мутациями в гене NR5A1. [Проблемы эндокринологии 2020;66(3):62-69. doi: 10.14341/probl12445] Калинченко, Н. Ю. Колодкина, А. А. Райгородская, Н. Ю. Тюльпаков, А. Н. Probl Endokrinol (Mosk) Research Article n the article some corrections were needed. Abstract: “Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 15 were not previously described”. has been corrected to read “Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 22 were not previously described”. Results: “Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 15 were not previously described”, has been corrected to read “Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 22 were not previously described”. Among the newly identified variants in the NR1A1 gene, two lead to the premature stop codon -p. Y197X and p. Y25X, two lead to a shift in the reading frame-p. N385fs and p. L245fs, which does not allow us to doubt their pathogenicityAmong the previously undescribed variant changes, 5 missense mutations (p. C283Y, p. C283B, p.H24Q, p.M126K, p.E81K) and 1 synonymous substitution affecting the splicing site (E330E) were evaluated as pathogenic, and 5 others as probably pathogenic. Has been corrected to read: Among the newly identified variants in the NR1A1 gene, two lead to the premature stop codon -p. Y197X and p. Y25X, two lead to a shift in the reading frame — p.N385SfsX10 and p.L245AfsX53, which does not allow us to doubt their pathogenicity Among the previously undescribed variants, 5 missense mutations (p.C283Y, p.С283F, p.H24Q, p.M126K, p.A82T) and 1 synonymous substitution affecting the splicing site (E330E) were predicted as pathogenic, and 5 others as probably pathogenic by calculating pathogenicity. The authors apologize for these errors. Endocrinology Research Centre 2021-12-30 /pmc/articles/PMC9112850/ /pubmed/35018768 http://dx.doi.org/10.14341/probl12848 Text en Copyright © Endocrinology Research Centre, 2021 https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 License. |
spellingShingle | Research Article Калинченко, Н. Ю. Колодкина, А. А. Райгородская, Н. Ю. Тюльпаков, А. Н. Ошибки: Клинические и молекулярно-генетические характеристики пациентов с нарушением формирования пола 46,XY, обусловленным мутациями в гене NR5A1. [Проблемы эндокринологии 2020;66(3):62-69. doi: 10.14341/probl12445] |
title | Ошибки: Клинические и молекулярно-генетические характеристики пациентов с нарушением формирования пола 46,XY, обусловленным мутациями в гене NR5A1. [Проблемы эндокринологии 2020;66(3):62-69. doi: 10.14341/probl12445] |
title_full | Ошибки: Клинические и молекулярно-генетические характеристики пациентов с нарушением формирования пола 46,XY, обусловленным мутациями в гене NR5A1. [Проблемы эндокринологии 2020;66(3):62-69. doi: 10.14341/probl12445] |
title_fullStr | Ошибки: Клинические и молекулярно-генетические характеристики пациентов с нарушением формирования пола 46,XY, обусловленным мутациями в гене NR5A1. [Проблемы эндокринологии 2020;66(3):62-69. doi: 10.14341/probl12445] |
title_full_unstemmed | Ошибки: Клинические и молекулярно-генетические характеристики пациентов с нарушением формирования пола 46,XY, обусловленным мутациями в гене NR5A1. [Проблемы эндокринологии 2020;66(3):62-69. doi: 10.14341/probl12445] |
title_short | Ошибки: Клинические и молекулярно-генетические характеристики пациентов с нарушением формирования пола 46,XY, обусловленным мутациями в гене NR5A1. [Проблемы эндокринологии 2020;66(3):62-69. doi: 10.14341/probl12445] |
title_sort | ошибки: клинические и молекулярно-генетические характеристики пациентов с нарушением формирования пола 46,xy, обусловленным мутациями в гене nr5a1. [проблемы эндокринологии 2020;66(3):62-69. doi: 10.14341/probl12445] |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9112850/ https://www.ncbi.nlm.nih.gov/pubmed/35018768 http://dx.doi.org/10.14341/probl12848 |
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