Molecular analysis in a Turkish patient with severe form of hurler syndrome: Identification of a novel c.826-828del3 mutation

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dc.contributor.authorUcar S.K.
dc.contributor.authorÇoker M.
dc.contributor.authorBertola F.
dc.contributor.authorCasati G.
dc.contributor.authorŞimşek D.G.
dc.contributor.authorDarcan Ş.
dc.date.accessioned2019-10-26T22:39:05Z
dc.date.available2019-10-26T22:39:05Z
dc.date.issued2010
dc.departmentEge Üniversitesien_US
dc.description.abstractMucopolysaccharidosis type I (MPS I) is a lysosomal disease due to mutations in the gene encoding alpha-L-iduronidase (IDUA) leading to variable clinical phenotypes with progressive severe organomegaly, bone and neurological involvement in the most severe forms. A two-year-old Turkish patient born from consanguineous marriage had an enzymatic and urinary diagnostics suggested a MPS I phenotype. The genetic evaluation revealed c.826-828del3 mutation in the homozygous state, whereas her parents were heterozygous for this mutation. Because of the high frequency of consanguineous marriages in Turkey, identification of the novel mutations permits reliable genetic counseling of at-risk relatives and molecular prenatal diagnosis.en_US
dc.identifier.endpage44en_US
dc.identifier.issn1300199X
dc.identifier.issn1300-199Xen_US
dc.identifier.issue1en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage41en_US
dc.identifier.urihttps://hdl.handle.net/11454/19957
dc.identifier.volume32en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.relation.ispartofErciyes Tip Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMucopolysaccharidosis Ien_US
dc.subjectMutationen_US
dc.titleMolecular analysis in a Turkish patient with severe form of hurler syndrome: Identification of a novel c.826-828del3 mutationen_US
dc.typeArticleen_US

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