نتایج جستجو برای: trp187arg mutation
تعداد نتایج: 291416 فیلتر نتایج به سال:
genetic diversity among plants sprouted from seven year old clones of mulberry (morus indica var. s36) was studied using molecular markers such as issr and rapd. the clones showed significant variability in sex expression and the sprouting behavior. these changes were appeared after seven years of rigorous pruning and training (pruned once in every 3-4months). genetic diversity analysis reveale...
reduced sperm quantity and motility are primary causes of infertility in men. before researchers showed that, nsun7 gene has roles in sperm motility of mouse, that creation defect in this gene is cause infertility. this gene in human located in chromosome 4, with 12 exons and a hot spot exon (exon7). our aim is study of the mutations of the exon7 in the normospermic and asthenoteratospermic men...
چکیده ندارد.
background hereditary hemochromatosis (hh) is a very rare disease in iran and reported cases are all negative for hfe mutation. we report a family affected by severe juvenile hemochromatosis (jh) with a detailed molecular study of the family members. methods we studied a pedigree with siblings affected by juvenile hh and followed them for 3 years. microsatellite and gene sequencing analysis was...
objectiveglutaric aciduria type 1 (gal 1) is a cerebral organic academia, which manifests as encephalopathy with long-term neurological handicap. in this study, clinical presentation, neuroimaging, molecular finding of cgdh mutation of our patients were reviewed.materials and methodsthis was a descriptive and cross-sectional study. patients in whom gla1 were suspected by clinical manifestation,...
results of the 135 h. pylori-positive specimens, two harbored strains with the a2143g mutation and nine contained strains with the a2144g mutation. thus, the prevalences of the a2143g and a2144g point mutations were 1.5% and 6.7%, respectively. the a2143c point mutation was not found. conclusions the prevalences of the point mutations a2143g and a2144g were low in our geographic area. based on ...
head and neck squamous cell carcinoma, including oral squamous cell carcinoma (oscc) is the sixth most common cancer in the human population. despite significant efforts committed in treatment of oscc the overall survival rate of oscc has not improved significantly. activating mutations in the fibroblast growth factor receptor 3 (fgfr3) genes are responsible for some human cancers, including bl...
desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (fap) as an extra-colonic manifestation of the disease. fap can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. although mild or attenuated fap may follow mutations in 5΄ extreme of the gene, it is more likely that ...
background: congenital adrenal hyperplasia (cah, the inherited inability to synthesize cortisol) is one of the most common (1 in 10000 to 1 in 15000) autosomal recessive disorders. more than 95% of cases of cah are caused by 21-hydroxylase deficiency (21-ohd). females with severe, classic 21-ohd are exposed to excess androgens prenatally and are born with virilized external genitalia. most pati...
conclusions these data will be beneficial for designing more advanced antibodies for the recognition of the hbsag in diagnostics. in addition, the results of this study may assist in the design or development of more effective hepatitis b vaccines. results the g145r mutation causes a considerable reduction in the immunogenic activity of the hbsag through a conformational change in the hbsag ant...
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