Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

Autor: Michael Krawczak, Mette Gaustadnes, Gianfranco Sebastio, Viktor Kozich, Hans G. Koch, Jitka Sokolová, Michael Linnebank, David Neil Cooper, Bridget Wilcken, Toshihiro Ohura, Ewa Pronicka, Generoso Andria, Guglielmina Pepe, Olga Rickards, Sufin Yap, Leo A. J. Kluijtmans, David E.L. Wilcken, E. R. Naughten, Petr Vyletal, Henk J. Blom, Godfried H.J. Boers, Jan P. Kraus, Flemming Skovby, Aranka László

Publikováno v: Vyletal, P, Sokolová, J, Cooper, DN, Kraus, JP, Krawczak, M, Pepe, G, Rickards, O, Koch, HG, Kluijtmans, LAJ, Blom, HJ, Boers, GHJ, Gaustadnes, M, Skovby, F, Wilcken, B, Wilcken, DEL, Andria, G, Sebastio, G, Naughten, ER, Yap, S, Ohura, T, Pronicka, E, Laszlo, A & Kožich, V 2007, ' Diversity of cystathionine ß-synthase haplotypes bearing the most common homocystinuria mutation c.833T >C: a possible role for gene conversion. ', Human Mutation, vol. 28, no. 3, pp. 255-264 . https://doi.org/10.1002/humu.20430
Human Mutation, 28, 3, pp. 255-64
Human Mutation
Human Mutation, 28, 255-64

Contains fulltext : 52383.pdf (Publisher’s version ) (Closed access) Homozygosity or compound heterozygosity for the c.833T>C transition (p.I278 T) in the cystathionine beta-synthase (CBS) gene represents the most common cause of pyridoxine-respons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b3dba13c26512ce843024099efb3be2
https://doi.org/10.1002/humu.20430

Molecular Genetic Diagnostic Difficulties in Two Hungarian Gypsy Samples with Cystic Fibrosis

Autor: Kálmán Gyurkovits, József Stankovics, Ágnes Szabó, Aranka László, Emoke Endreffy, Krisztina Németh, György Fekete, Eniko Solyom, Tamás Dolinay, István Raskó

Publikováno v: International Journal of Human Genetics. 2:41-44

The frequency of ∆ F508 mutation in the CFTR gene was compared in Gypsy and European samples from 3 different geographical regions of Hungary. The frequency of ∆ F508 mutation in a total of 21 Gypsy patients was 43%, with 0.144 homozygosity index

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::495ec7d90ce20b78f1e1b98e9224ea05
https://doi.org/10.1080/09723757.2002.11885782

A Survey of the Newborn Populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 Variant Allele with Haplotype Analysis at the Medium Chain Acyl-CoA

Autor: Stanislav Kmoch, Luba Kalaydjicva, Steen Kølvraa, Kay Tanaka, Gemma Martinez, Niels Gregersen, Ivo Kremensky, Vibeke Winter, Ewa Pronicka, René Santer, Aranka László, Thomas Deufel, Hans Eiberg, Michinori Ito, Barbara Leifert, Julie Kim, Imran Ozalp, Antonia Ribes, Baudouin Francois

Publikováno v: Pediatric Research. 41:201-209

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism. It is one of the most frequent genetic metabolic disorders among Caucasian children. The G985 allele represented 90% of all the variant alleles of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eaa9b6331a9c0e09ba96bca4278f71c6
https://doi.org/10.1203/00006450-199702000-00008

Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients

Autor: Aranka, László, László, Török, Sarolta, Raffai, Eva, Török, Eva, Sallay, Emoke, Endreffy, László, Morvai, J K Ploos, van Amstel

Publikováno v: Ideggyogyaszati szemle. 65(1-2)

AIM was to detect the mutations of alpha-galactosidase A gene in two Hungarian Fabry patients.Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the alpha-galactosidase A gene.Case

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::55705b98bdc470b149ea8567f17504fe
https://pubmed.ncbi.nlm.nih.gov/22338844

Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis

Autor: Aranka, László, Emoke, Endreffy, Zeynep, Tümer, Nina, Horn, János, Szabó

Publikováno v: Ideggyogyaszati szemle. 63(1-2)

Menkes disease (MD) is an X-linked recessive multisystemic lethal, heredodegenerative disorder. Progressive neurodegeneration and connective tissue disturbances with microscopically kinky hair are the main symptoms. Molecular genetic mutation analysi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5daf7fc31afa0a7697e6bd0de9a58125
https://pubmed.ncbi.nlm.nih.gov/20420124