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dc.contributor.authorEdelman, E. Jennifer
dc.contributor.authorMaksimova, Yelena
dc.contributor.authorDuru, Feride
dc.contributor.authorAltay, Cigdem
dc.contributor.authorGallagher, Patrick G.
dc.date.accessioned2019-12-10T10:42:02Z
dc.date.available2019-12-10T10:42:02Z
dc.date.issued2007
dc.identifier.issn0006-4971
dc.identifier.urihttps://doi.org/10.1182/blood-2006-09-046573
dc.identifier.urihttp://hdl.handle.net/11655/14212
dc.description.abstractDefects in erythrocyte ankyrin are the most common cause of typical, dominant hereditary spherocytosis (HS). Detection of ankyrin gene mutations has been complicated by allelic heterogeneity, large gene size, frequent de novo mutations, and associated mRNA instability. Using denaturing high-performance liquid chromatography (DHPLC)-based mutation detection, a mutation in the splice acceptor of exon 17 was discovered in a Turkish family, Reticulocyte RNA and functional minigene splicing assays in heterologous cells revealed that this mutation was associated with a complex pattern of aberrant splicing, suggesting that removal of intron 16 is important for ordered ankyrin mRNA splicing. As predicted by clinical, laboratory, and biochemical studies, the parents were heterozygous and the proband was homozygous for this mutation. These data indicate that DHPLC offers a highly sensitive, economic, and rapid method for mutation detection and, unlike previously suggested, homozygosity for a mutation associated with dominant ankyrin-linked HS may be compatible with life.
dc.language.isoen
dc.publisherAmer Soc Hematology
dc.relation.isversionof10.1182/blood-2006-09-046573
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectHematology
dc.titleA Complex Splicing Defect Associated With Homozygous Ankyrin-Deficient Hereditary Spherocytosis
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalBlood
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume109
dc.identifier.issue12
dc.identifier.startpage5491
dc.identifier.endpage5493
dc.description.indexWoS
dc.description.indexScopus


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