Gender characteristics of the clinical manifestations of cardiovascular system involvement in X-linked Alport syndrome
The paper describes a clinical case of a family, in which its 5 members (4 women and 1 man) were found to have the new missence mutation c. 3098G>A, p.(1033D) in the gene encoding the α5-chain of type IV collagen (COL4A5) responsible for the development of X-linked Alport syndrome. At the sam...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2016-07-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/328 |