چاپ صفحه |  صفحه نخست سامانه |  چکیده مقاله |  نویسندگان |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| MYH9-related diseases (MYH9-RD) are clinically represented by thrombocytopenia, large platelets, proteinuria and various degrees of renal dysfunction. We present a 25-year-old male with thrombocytopenia, large platelets, renal dysfunction and proteinuria. Gene sequencing of whole exons of MYH9 gene confirmed the diagnosis of MYH9-related disorder and revealed single nucleotide polymorphisms (SNPs) in the introns 13 (rs3752462) and 14 (rs2413396) and a mutation in exon 26 of MYH9 gene. Our result supported the possibility of non-coding SNPs involvement in the pathogenicity of the MYH9-RD disease and successful renal transplant in this patient. |
| نویسنده | نفر چندم مقاله |
|---|---|
| سپیده زنونی واحد | اول |
| بهرام نیک نفس | دوم |
| حمید نوشاد عباسپور | سوم |
| محمد رضا اردلان | هفتم |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| Renal transplantation in a patient with MHY9-related disease.pdf | 1399/04/23 | 415219 | دانلود |
