Zobrazeno 1 - 2
of 2
pro vyhledávání: '"L. I. Shagam"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::613263b63c5fb7e27fe39d2191234a6b
https://www.ped-perinatology.ru/jour/article/view/328
https://www.ped-perinatology.ru/jour/article/view/328
Autor:
L. I. Shagam, V. Yu. Voinova
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 61, Iss 2, Pp 105-109 (2016)
The paper deals with the topical issues of using high-performance sequencing to diagnose monogenic diseases. The de facto method is widely used in clinical practice. The rapid development of high-performance sequencing requires that medical geneticis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff2db5b355089c95cbeb19f79a3daf24
https://doi.org/10.21508/1027-4065-2016-61-2-105-109
https://doi.org/10.21508/1027-4065-2016-61-2-105-109