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Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617893/ https://www.ncbi.nlm.nih.gov/pubmed/36805600 http://dx.doi.org/10.1097/CM9.0000000000002417 |
| _version_ | 1785129673387147264 |
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| author | Zhong, Lijuan Li, Yin He, Xiaohong Dey, Subrata Kumar Zhang, Quanfu Banerjee, Santasree |
| author_facet | Zhong, Lijuan Li, Yin He, Xiaohong Dey, Subrata Kumar Zhang, Quanfu Banerjee, Santasree |
| author_sort | Zhong, Lijuan |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-10617893 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | Lippincott Williams & Wilkins |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-106178932023-11-05 Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism Zhong, Lijuan Li, Yin He, Xiaohong Dey, Subrata Kumar Zhang, Quanfu Banerjee, Santasree Chin Med J (Engl) Correspondence Lippincott Williams & Wilkins 2023-11-05 2023-02-13 /pmc/articles/PMC10617893/ /pubmed/36805600 http://dx.doi.org/10.1097/CM9.0000000000002417 Text en Copyright © 2023 The Chinese Medical Association, produced by Wolters Kluwer, Inc. under the CC-BY-NC-ND license. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) |
| spellingShingle | Correspondence Zhong, Lijuan Li, Yin He, Xiaohong Dey, Subrata Kumar Zhang, Quanfu Banerjee, Santasree Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism |
| title | Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism |
| title_full | Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism |
| title_fullStr | Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism |
| title_full_unstemmed | Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism |
| title_short | Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism |
| title_sort | identification and functional characterization of a novel truncating splicing variant in col4a5 gene causing x-linked alport syndrome with astigmatism |
| topic | Correspondence |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617893/ https://www.ncbi.nlm.nih.gov/pubmed/36805600 http://dx.doi.org/10.1097/CM9.0000000000002417 |
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