A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia

dc.authorscopusid 57195415079
dc.authorscopusid 7102515965
dc.contributor.author Özkan,D.T.
dc.contributor.author Akar,N.
dc.date.accessioned 2024-05-25T12:32:29Z
dc.date.available 2024-05-25T12:32:29Z
dc.date.issued 2018
dc.department Okan University en_US
dc.department-temp Özkan D.T., Okan University, Vocational School of Health Services, Istanbul, Turkey; Akar N., TOBB-ETU Medical School, Department of Pediatrics, Ankara, Turkey en_US
dc.description.abstract Macrothrombocytopenia is a congenital autosomal dominant blood disorder characterized by increased platelet size and decreased number of circulating platelets (Althaus and Greinacher, 2009). Here, we report a 32 year old beta thalassemia major patient admitted to the hospital for the evaluation of low thrombocyte count. In this study, we aimed to analyze mutations in MYH9 gene in our patient, we found a T to G nucleotide change at 3814 in exon 25, resulting in a transition of Serine to Alanine (p.S1195A) in MYH9 gene (Fig. 1) This mutation is reported for the first time in our population and not defined at Human Gene Mutation Database (HGMD) previously. © 2017 Ain Shams University en_US
dc.identifier.citationcount 0
dc.identifier.doi 10.1016/j.ejmhg.2017.08.006
dc.identifier.endpage 272 en_US
dc.identifier.issn 1110-8630
dc.identifier.issue 3 en_US
dc.identifier.scopus 2-s2.0-85028018855
dc.identifier.scopusquality Q4
dc.identifier.startpage 271 en_US
dc.identifier.uri https://doi.org/10.1016/j.ejmhg.2017.08.006
dc.identifier.uri https://hdl.handle.net/20.500.14517/2391
dc.identifier.volume 19 en_US
dc.language.iso en
dc.publisher Egyptian Society of Human Genetics en_US
dc.relation.ispartof Egyptian Journal of Medical Human Genetics en_US
dc.relation.publicationcategory Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı en_US
dc.rights info:eu-repo/semantics/openAccess en_US
dc.scopus.citedbyCount 0
dc.subject Beta thalassemia en_US
dc.subject MYH9 gene en_US
dc.subject Thrombocytopenia en_US
dc.title A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia en_US
dc.type Article en_US

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