Zobrazeno 1 - 2
of 2
pro vyhledávání: '"D. V. Shentseva"'
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 62, Iss 1, Pp 69-73 (2017)
A total of 50 patients from 45 unrelated families diagnosed with Alport’s syndrome were examined. The diagnosis was based on molecular genetic testing or kidney biopsy. To assess changes in the aortic root, its volume was examined (calculation meth
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 61, Iss 3, Pp 76-80 (2016)
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 develop