{"?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-NXGSF6JV/5807fd05-f8d0-4d38-9218-27f43b2619fb/PDF","dcterms:extent":"280 KB"},{"@rdf:about":"http://www.dlib.si/stream/URN:NBN:SI:doc-NXGSF6JV/4c96163d-47bb-403c-ba92-7c6a5b13ddb7/TEXT","dcterms:extent":"44 KB"}],"edm:TimeSpan":{"@rdf:about":"1998-2025","edm:begin":{"@xml:lang":"en","#text":"1998"},"edm:end":{"@xml:lang":"en","#text":"2025"}},"edm:ProvidedCHO":{"@rdf:about":"URN:NBN:SI:doc-NXGSF6JV","dcterms:isPartOf":[{"@rdf:resource":"https://www.dlib.si/details/URN:NBN:SI:spr-KC6O72BG"},{"@xml:lang":"sl","#text":"Acta chimica slovenica"}],"dcterms:issued":"2021","dc:creator":["Battelino, Tadej","Bertok, Sara","Debeljak, Maruša","Hovnik, Tinka","Stirn-Kranjc, Branka","Tekavčič Pompe, Manca","Trebušak Podkrajšek, Katarina"],"dc:format":[{"@xml:lang":"sl","#text":"številka:3"},{"@xml:lang":"sl","#text":"str. 683-692"},{"@xml:lang":"sl","#text":"letnik:vol 68"}],"dc:identifier":["DOI:10.17344/acsi.2021.6690","ISSN:1318-0207","COBISSID_HOST:72365315","URN:URN:NBN:SI:doc-NXGSF6JV"],"dc:language":"en","dc:publisher":[{"@xml:lang":"sl","#text":"Slovenian Chemical Society"},{"@xml:lang":"sl","#text":"Slovensko kemijsko društvo"}],"dc:subject":[{"@xml:lang":"sl","#text":"genetska variabilnost"},{"@xml:lang":"sl","#text":"Hermansky-Pudlakov sindrom tipa 1"},{"@xml:lang":"sl","#text":"okulokontaktni albinizem"},{"@xml:lang":"sl","#text":"sekvenciranje naslednje generacije"}],"dcterms:temporal":{"@rdf:resource":"1998-2025"},"dc:title":{"@xml:lang":"sl","#text":"Genetic variability in Slovenian cohort of patients with oculocutaneous albinism|"},"dc:description":{"@xml:lang":"sl","#text":"Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach. In as much as 20 out of 25 patients, genetic variants explaining their clinical phenotype were identified. The great majority of patients (15/25) had genetic variants in TYR gene associated with OCA type 1, followed by variants in TYRP1, SLC45A2 and HPS1 genes causative for OCA3, OCA4 and Hermansky-Pudlak syndrome type 1, respectively. We concluded that OCA phenotype could not predict genotype and vice versa. Nevertheless, the diagnostic yield after targeted next generation sequencing (NGS) was 80% and proved to be affective in our paediatric cohort of patients with various degree of OCA. Even in 16 patients with normal complexion the diagnostic yield was 62,5%. Interestingly, we have identified a patient of white European ancestry with OCA3, which is an extremely rare report, and one patient with OCA due to the Hermansky-Pudlak syndrome type 1"},"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-NXGSF6JV","edm:aggregatedCHO":{"@rdf:resource":"URN:NBN:SI:doc-NXGSF6JV"},"edm:isShownBy":{"@rdf:resource":"http://www.dlib.si/stream/URN:NBN:SI:doc-NXGSF6JV/5807fd05-f8d0-4d38-9218-27f43b2619fb/PDF"},"edm:rights":{"@rdf:resource":"http://creativecommons.org/licenses/by/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 kemijsko društvo"},"edm:object":{"@rdf:resource":"http://www.dlib.si/streamdb/URN:NBN:SI:doc-NXGSF6JV/maxi/edm"},"edm:isShownAt":{"@rdf:resource":"http://www.dlib.si/details/URN:NBN:SI:doc-NXGSF6JV"}}}}