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

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.

Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research