Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Nazym B Nigmatullina"'
Autor:
Barshagul T Baikara, Elena V Zholdybayeva, Saule E Rakhimova, Nazym B Nigmatullina, Kuvat T Momynaliev, Yerlan M Ramanculov
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0132010 (2015)
Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene
Externí odkaz:
https://doaj.org/article/22f624b1f7b5482784fd7c21111028ff
Autor:
Kuvat Momynaliev, Yerlan M. Ramanculov, Elena Zholdybayeva, Saule Rakhimova, Barshagul T. Baikara, Nazym B. Nigmatullina
Publikováno v:
PLoS ONE
PLoS ONE, Vol 10, Iss 7, p e0132010 (2015)
PLoS ONE, Vol 10, Iss 7, p e0132010 (2015)
Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33427689337fe3eeb4be201177b7c730
http://europepmc.org/articles/PMC4500592
http://europepmc.org/articles/PMC4500592
Autor:
Elena Zholdybayeva, Kuvat Momynaliev, Saule Rakhimova, Nazym B. Nigmatullina, Nagima M. Mustapayeva, Barshagul T. Baikara
Publikováno v:
Journal of genetics. 93(3)
Alport syndrome is a type-IV collagen inherited disorder caused by mutations in COL4A3 and COL4A4 (autosomal recessive) or COL4A5 (X-linked). In our study, we describe the case of Alport syndrome in a Kazakh family. The 20year-old male, born in 1993,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::199d6a3a4d9a65ec39d019c25cc16c9b
https://pubmed.ncbi.nlm.nih.gov/25572247
https://pubmed.ncbi.nlm.nih.gov/25572247