Search Results - "Ferakova, Eva"

Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma by Plášilová, Martina, Stoilov, Ivaylo, Sarfarazi, Mansoor, Kádasi, Ludovít, Feráková, Eva, Ferák, Vladimír

“…Primary congenital glaucoma (PCG) is an autosomal recessive eye disease that occurs at an unusually high frequency in the ethnic isolate of Roms (Gypsies) in…”
Get full text

Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia by Plásilová, M, Feráková, E, Kádasi, L, Poláková, H, Gerinec, A, Ott, J, Ferák, V

“…The autosomal recessive form of primary congenital glaucoma (gene symbol GLC3) has been recently mapped to two different loci, GLC3A (at 2p21), and GLC3B (at…”
Get more information

High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots by ZATKOVA, Andrea, BELTRAN VALERO DE BERNABE, Daniel, POLAKOVA, Helena, ZVARIK, Marek, FERAKOVA, Eva, BOSAK, Vladimir, FERAK, Vladimir, KADASI, Udovit, RODRIGUEZ DE CORDOBA, Santiago

“…Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 dioxygenase (HGO) activity. AKU shows a very low prevalence…”
Get full text

High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots by Zatkova, Andrea, de Bernabe, Daniel Beltran Valero, Polakova, Helena, Zvarik, Marek, Ferakova, Eva, Bošak, Vladimir, Ferak, Vladimir, Kadasi, L'udovit, de Cordoba, Santiago Rodriguez

Get full text

PKU in Slovakia : mutation screening and haplotype analysis by KADASI, L, POLAKOVA, H, FERAKOVA, E, HUDECOVA, S, BOHUSOVA, T, SZOMOLAYOVA, I, STRNOVA, J, HRUSKOVIC, I, MOSCHONAS, N. K, FERAK, V

“…The restriction fragment length polymorphism haplotypes and seven common mutations in the phenylalanine hydroxylase gene were analysed in 49 unrelated Slovak…”
Get full text