Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Yu A, Luchinina"'
Autor:
E Yu Demidova, V. V. Salomashkina, E. A. Likhacheva, O. S. Pshenichnikova, Yu. A. Luchinina, V. L. Surin, D. S. Selivanova
Publikováno v:
Scopus-Elsevier
Hemophilia B is a hereditary X-linked coagulation disorder. This pathology is caused by various defects in the factor IX gene, which is, being about 34 kb long and consisting of eight exons, localized in the Xq27 locus of the X-chromosome long arm. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d10173da66b7affa1ded285d4a11e050
https://doi.org/10.1134/s1022795416040116
https://doi.org/10.1134/s1022795416040116
Autor:
V L, Surin, E Yu, Demidova, D S, Selivanova, Yu A, Luchinina, V V, Salomashkina, O S, Pshenichnikova, E A, Likhacheva
Publikováno v:
Genetika. 52(4)
Hemophilia B is a hereditary X-linked coagulation disorder. This pathology is caused by various defects in the factor IX gene, which is, being about 34 kb long and consisting of eight exons, localized in the Xq27 locus of the. X-chromosome long arm.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::da7e86a61c4a36fd4dcef6109eeaf9ad
https://pubmed.ncbi.nlm.nih.gov/27529981
https://pubmed.ncbi.nlm.nih.gov/27529981
Autor:
Yu. A. Luchinina, I. V. Karpova, D. S. Selivanova, Kravchenko Sk, A V Luk'ianenko, Ya. S. Pustovoit, Pivnik Av, V. L. Surin
Publikováno v:
Russian Journal of Genetics. 46:476-487
Acute intermittent porphyria (AIP) is an autosomal dominant hereditary disease, caused by partial deficiency of porphobilinogen deaminase (PBGD), one of the key enzymes ofheme biosynthesis. This study describes molecular genetics of AIP in Russia. Mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a186a6f22b26fbb5f1fdb5015d1ad283
https://doi.org/10.1134/s1022795410040149
https://doi.org/10.1134/s1022795410040149
Publikováno v:
Scopus-Elsevier
In search of new efficient markers for genetic diagnostics of hemophilia A, two tri-nucleotide microsatellite repeats (STR) at chromosome X loci, which flank coagulation factor VIII gene (F8), namely STR HA472—CTT-repeat, which is localized adjacen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e74cd3b630a8c91e94a5ab4f196e9f
https://doi.org/10.1134/s1022795407060130
https://doi.org/10.1134/s1022795407060130
Publikováno v:
Scopus-Elsevier
Frequencies of the C/T SNP alleles at position 2403 of the human coagulation factor VIII gene intron 1, containing the AluI restriction endonuclease recognition site, were examined. Genomic DNA samples for the analysis were obtained from the consulte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::654568c3202f95942d55eefc27760d1e
https://doi.org/10.1134/s1022795407040151
https://doi.org/10.1134/s1022795407040151