Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/1415
Title: A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia.
Authors: Özkan, Didem Torun
Akar, Mehmet Nejat
258887
Keywords: Thrombocytopenia
Beta thalassemia
MYH9 gene
Issue Date: Jul-2018
Publisher: Elsevier
Source: Özkan, D. T., & Akar, N. (2018). A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia. Egyptian Journal of Medical Human Genetics, 19(3), 271-272. doi:10.1016/j.ejmhg.2017.08.006
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.
URI: https://www.sciencedirect.com/science/article/pii/S1110863017300782
https://hdl.handle.net/20.500.11851/1415
ISSN: 1110-8630
Appears in Collections:Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection

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