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dc.contributor.authorDursun, A.
dc.contributor.authorOzgul, R. K.
dc.contributor.authorSivri, S.
dc.contributor.authorTokatli, A.
dc.contributor.authorGuzel, A.
dc.contributor.authorMesci, L.
dc.contributor.authorKilic, M.
dc.contributor.authorAliefendioglu, D.
dc.contributor.authorOzcay, F.
dc.contributor.authorGunduz, M.
dc.contributor.authorCoskun, T.
dc.date.accessioned2019-12-10T10:41:17Z
dc.date.available2019-12-10T10:41:17Z
dc.date.issued2011
dc.identifier.issn2192-8304
dc.identifier.urihttps://doi.org/10.1007/8904_2011_10
dc.identifier.urihttp://hdl.handle.net/11655/14171
dc.description.abstractTyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patients with tyrosinemia type I. In addition, clinical and biochemical findings were evaluated to establish a genotype phenotype relationship in the patients. Mutation screening was performed using a 50K custom-designed resequencing microarray chip (TR_06_01r520489, Affymetrix) and sequencing analysis. Of the 12 different mutations found, 6 are categorized as novel. Three of the mutations-IVS6-1G>A, D233V, and IVS3-3C>G-are the most common in Turkish patients, comprising 25%, 17.1%, and 12.5% of mutant alleles, respectively. Clinical evaluations suggest that the spectrum of symptoms observed in the patients with very early and early disease were of the more nonspecific form, whereas the patients with late-presenting disease had more of the distinctive form over the course of the disease. This study adds support to the notion that the D233V mutation is specific to the Turkish population.
dc.language.isoen
dc.publisherSpringer-Verlag Berlin
dc.relation.isversionof10.1007/8904_2011_10
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGenetics & Heredity
dc.titleMutation Spectrum Of Fumarylacetoacetase Gene And Clinical Aspects Of Tyrosinemia Type I Disease
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/bookPart
dc.relation.journalJimd Reports: Case And Research Reports, 2011/1
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume1
dc.identifier.startpage17
dc.identifier.endpage21
dc.description.indexWoS


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