{"?xml":{"@version":"1.0"},"edm:RDF":{"@xmlns:dc":"http://purl.org/dc/elements/1.1/","@xmlns:edm":"http://www.europeana.eu/schemas/edm/","@xmlns:wgs84_pos":"http://www.w3.org/2003/01/geo/wgs84_pos","@xmlns:foaf":"http://xmlns.com/foaf/0.1/","@xmlns:rdaGr2":"http://rdvocab.info/ElementsGr2","@xmlns:oai":"http://www.openarchives.org/OAI/2.0/","@xmlns:owl":"http://www.w3.org/2002/07/owl#","@xmlns:rdf":"http://www.w3.org/1999/02/22-rdf-syntax-ns#","@xmlns:ore":"http://www.openarchives.org/ore/terms/","@xmlns:skos":"http://www.w3.org/2004/02/skos/core#","@xmlns:dcterms":"http://purl.org/dc/terms/","edm:WebResource":[{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:DOC-TUUWPXJQ/fa4fef54-49ec-4ea4-9ffd-f7c9defdfbd5/PDF","dcterms:extent":"97 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:DOC-TUUWPXJQ/3f008087-df98-4ec5-a477-16564f8b9170/TEXT","dcterms:extent":"13 KB"}],"edm:TimeSpan":{"@rdf:about":"1929-2026","edm:begin":{"@xml:lang":"en","#text":"1929"},"edm:end":{"@xml:lang":"en","#text":"2026"}},"edm:ProvidedCHO":{"@rdf:about":"URN:NBN:SI:DOC-TUUWPXJQ","dcterms:isPartOf":[{"@rdf:resource":"https://www.dlib.si/details/urn:nbn:si:spr-a30mfzkp"},{"@xml:lang":"sl","#text":"Zdravniški vestnik"}],"dcterms:issued":"2004","dc:creator":["Benedik-Dolničar, Majda","Debeljak, Maruša","Strmecki, Lana"],"dc:format":{"@xml:lang":"sl","#text":"str. I-155-I-157"},"dc:identifier":["ISSN:1318-0347","COBISSID_HOST:17684185","URN:URN:NBN:SI:doc-TUUWPXJQ"],"dc:language":"sl","dc:publisher":{"@xml:lang":"sl","#text":"Slovensko zdravniško društvo"},"dc:subject":[{"@xml:lang":"sl","#text":"Factor VIII"},{"@xml:lang":"sl","#text":"Faktor VIII"},{"@xml:lang":"sl","#text":"Genetics"},{"@xml:lang":"sl","#text":"Hemophilia"},{"@xml:lang":"sl","#text":"Introni"},{"@xml:lang":"sl","#text":"Introns"},{"@xml:lang":"sl","#text":"Point Mutation"},{"@xml:lang":"sl","#text":"Točkovna mutacija"}],"dcterms:temporal":{"@rdf:resource":"1929-2026"},"dc:title":{"@xml:lang":"sl","#text":"Genska diagnostika hemofilije A| Genetic diagnostics of hemophilia A|"},"dc:description":[{"@xml:lang":"sl","#text":"Background. Hemophilia A is a chromosome X-linked bleeding disorder due to mutations in the FVlll gene. There are 163 hemophilia A patients in Slovene registry for Hemophilia. 74 have severe hemophilia A and 50% of patients with severe hemophilia A have inversion of intron 22 that is detected using the LD-PCR method. Point mutations are detected by amplification of exons of the factor Vlll gene followed with a direct sequencing technique. Results. In the Slovene population we managed to determine a genetic mutation in 67/163 patients, 36/67 have inversion of intron 22 and another 31/67 have 12 different point mutations in the FVIII gene which cause hemophilia A. Three ofthem are so far found only among Slovene patients. Conclusions. The identification of hemophilia mutations is of great importance for the timely discovery of the hemophilia carriers and the pre-natal diagnostics of hemophilia A"},{"@xml:lang":"sl","#text":"Izhodišča. Hemofilija A je recesivna dedna bolezen, vezana na kromosom X, z motnjo v strjevanju krvi. Hemofilija A je posledica različnih mutacij v genu za faktor VIII. V Slovenskem registru je zabeleženih 163 bolnikov s hemofilijoA, 74 od teh jih ima težko obliko bolezni. Približno 50 odstotkov bolnikov s težko obliko bolezni ima inverzijsko mutacijo introna 22, ki jo ugotavljamo s pomnoževanjem dolgih odsekov DNK. Točkovne mutacije iščemo s pomnoževanjem različnih eksonskih zaporedij v genu za faktor Vlll in nato z direktnim sekvenciranjem. Rezultati. V slovenski populaciji smo doslej odkriligensko mutacijo pri 67/163 bolnikih s hemofilijo A, od tega pri 36/67 inverzijsko mutacijo in še 12 različnih točkovnih mutacij pri 31/67 bolnikih. Tri od dokazanih točkovnih mutacij so bile opisane samo pri slovenskih bolnikih. Zaključki. Določitev mutacij pri hemofilikih je zelo pomembna zaradipravočasnega odkrivanja prenašalk hemofilije in diagnosticiranja hemofilije A pred rojstvom"}],"edm:type":"TEXT","dc:type":[{"@xml:lang":"sl","#text":"znanstveno časopisje"},{"@xml:lang":"en","#text":"journals"},{"@rdf:resource":"http://www.wikidata.org/entity/Q361785"}]},"ore:Aggregation":{"@rdf:about":"http://www.dlib.si/?URN=URN:NBN:SI:DOC-TUUWPXJQ","edm:aggregatedCHO":{"@rdf:resource":"URN:NBN:SI:DOC-TUUWPXJQ"},"edm:isShownBy":{"@rdf:resource":"http://www.dlib.si/stream/URN:NBN:SI:DOC-TUUWPXJQ/fa4fef54-49ec-4ea4-9ffd-f7c9defdfbd5/PDF"},"edm:rights":{"@rdf:resource":"http://creativecommons.org/licenses/by-nc/4.0/"},"edm:provider":"Slovenian National E-content Aggregator","edm:intermediateProvider":{"@xml:lang":"en","#text":"National and University Library of Slovenia"},"edm:dataProvider":{"@xml:lang":"sl","#text":"Slovensko zdravniško društvo"},"edm:object":{"@rdf:resource":"http://www.dlib.si/streamdb/URN:NBN:SI:DOC-TUUWPXJQ/maxi/edm"},"edm:isShownAt":{"@rdf:resource":"http://www.dlib.si/details/URN:NBN:SI:DOC-TUUWPXJQ"}}}}