Search Results - "Luchinina, Yu A"

Molecular genetic study of acute intermittent porphyria in Russia: Mutation analysis and functional polymorphism search in porphobilinogen deaminase gene by Surin, V. L, Luchinina, Yu. A, Selivanova, D. S, Pustovoit, Ya. S, Karpova, I. V, Pivnik, A. V, Luk'ianenko, A. V, Kravchenko, S. K

“…Acute intermittent porphyria (AIP) is an autosomal dominant hereditary disease, caused by partial deficiency of porphobilinogen deaminase (PBGD), one of the…”
Get full text

Mutational analysis of hemophilia B in Russia: Molecular-genetic study by Surin, V. L., Demidova, E. Yu, Selivanova, D. S., Luchinina, Yu. A., Salomashkina, V. V., Pshenichnikova, O. S., Likhacheva, E. A.

“…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…”
Get full text

Analysis of the AluI polymorphism in intron 1 of the human coagulation factor VIII gene: A new marker for the hemophilia a carrier detection by Surin, V. L., Lukianenko, A. V., Luchinina, Yu. A.

“…Frequencies of the C/T SNP alleles at position 2403 of the human coagulation factor VIII gene intron 1, containing the AluI restriction endonuclease…”
Get full text

New efficient extragenic microsatellite markers for hemophilia a carrier state diagnostics by Surin, V. L., Luk’yanenko, A. V., Luchinina, Yu. A.

“…In search of new efficient markers for genetic diagnostics of hemophilia A, two tri-nucleotide microsatellite repeats (STR) at chromosome X loci, which flank…”
Get full text

Mutational Analysis of Hemophilia B in Russia: Molecular-Genetic Study by Surin, V L, Demidova, E Yu, Selivanova, D S, Luchinina, Yu A, Salomashkina, V V, Pshenichnikova, O S, Likhacheva, E A

“…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…”
Get more information

Acute porphyrias: problem of primary diagnosis in Russia and CIS countries by Karpova, I V, Pustovoĭt, Ia S, Luchinina, Iu A, Surin, V L, Luk'ianenko, A V, Kravshenko, S K, Kremenetskaia, A M

“…To analyse manifestations and experience in primary screening diagnosis of acute porphyrias which are rarely encountered and little known by general…”
Get more information