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dc.contributor.authorBalta, Günay
dc.contributor.authorGümrük, F.
dc.contributor.authorAkarsu, N.
dc.contributor.authorGürgey, A.
dc.contributor.authorAltay, C.
dc.date.accessioned2020-01-29T07:54:52Z
dc.date.available2020-01-29T07:54:52Z
dc.date.issued2003
dc.identifier.issn0006-4971
dc.identifier.urihttps://doi.org/10.1182/blood-2003-02-0628
dc.identifier.urihttp://hdl.handle.net/11655/21900
dc.description.abstractPyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Recently, the structure and location of the P5N-I gene have been published. This paper presents the results of a study characterizing the molecular pathologies of P5N-I deficiency in a total of 6 Turkish patients from 4 unrelated families of consanguineous marriages. Mutation analysis in the P5N-I gene led to the identification of 3 novel mutations in these patients. In 4 patients from 2 families, a homozygous insertion of double G at position 743 was detected in exon 9 (743-744insGG), leading to premature termination of translation 23 bp downstream. In one family, a homozygous T to G transition at position 543 (543T>G) in exon 8 resulted in the replacement of tyrosine (Tyr) with a stop codon (Tyr181Stop). In another family, a homozygous insertion of a single A in exon 7 (384-385insA) created a stop signal at the codon nearby. In all families, the parents were heterozygous for the relevant mutations. None of these changes was detected in 200 chromosomes from a healthy Turkish population. These mutations were not correlated with any particular phenotype.tr_TR
dc.language.isoengtr_TR
dc.publisherAmer Soc Hematologytr_TR
dc.relation.isversionof10.1182/blood-2003-02-0628tr_TR
dc.rightsinfo:eu-repo/semantics/openAccesstr_TR
dc.subjectRed cellstr_TR
dc.subjectSignal transductiontr_TR
dc.subject.lcshTıptr_TR
dc.titleMolecular Characterization Of Turkish Patients With Pyrimidine 5 ' Nucleotidase-I Deficiencytr_TR
dc.typeinfo:eu-repo/semantics/articletr_TR
dc.relation.journalBloodtr_TR
dc.contributor.departmentPediatrik Temel Bilimlertr_TR
dc.identifier.volume102tr_TR
dc.identifier.issue5tr_TR
dc.identifier.startpage1900tr_TR
dc.identifier.endpage1903tr_TR
dc.indexingWoStr_TR
dc.indexingScopustr_TR
dc.fundingYoktr_TR


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