نتایج جستجو برای: ymdd mutation
تعداد نتایج: 291493 فیلتر نتایج به سال:
background :according to numerous studies, fms-like tyrosine kinase 3, internal tandem duplication, and the d835 mutation are associated with a poor prognostic clinical outcome in acute myeloid leukemia patients. detection of the fms-like tyrosine kinase 3 mutation in patients who present with normal karyotype acute myeloid leukemia helps in both the understanding of the disease and the treatme...
Background and Aim: Jaundice is a common disorder in neonates and one of the provable causes of glucose-6-phosphate dehydrogenase (G6PD) deficiency, some mutation types of which may be associated with severe neonatal icter. In this line, the present study has been conducted to compare G6PD mutations in incteric and non icteric neonates. Materials and Methods: This case-control study was imple...
Background Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein consisting of 1465 amino acids. Identifying mutation in ATP7B gene is important to find carrier i...
BACKGROUND Entecavir (ETV) is a deoxyguanosine analog competitive inhibitor of hepatitis B virus (HBV) polymerase that exhibits delayed chain termination of HBV DNA. A high barrier to entecavir-resistance (ETVr) is observed clinically, likely due to its potency and a requirement for multiple resistance changes to overcome suppression. Changes in the HBV polymerase reverse-transcriptase (RT) dom...
Background: JAK2 is a nonreceptor tyrosine kinase that plays a major role in myeloid disorders. This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. In this study we compared the amplification refractory mutation (ARM...
Background: Behcet’s disease (BD) is a multisystemic inflammatory disease with unknown origin characterized by recurrent oral aphtous ulcers, genital, ocular and skin lesions. A single point mutation 1691G to A in the factor V gene increases the risk of venous thrombosis. This study designed to determine factor V Leiden mutation in Behcet’s disease, and to find out it's relationship with the cl...
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