نتایج جستجو برای: rare mutation
تعداد نتایج: 516877 فیلتر نتایج به سال:
In 2007 and 2008 in Myanmar, we detected influenza viruses A (H3N2) that exhibited reduced sensitivity to both zanamivir and amantadine. These rare and naturally occurring viruses harbored a novel Q136K mutation in neuraminidase and S31N mutation in M2.
Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...
severe congenital neutropenia (scn) is a rare primary immunodeficiency disease. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr and g6pc3. the aim of this study was to find different gene mutations responsible for scn in iranian patients. twenty-seven patients with scn referred to immunology, asthma and allergy r...
HUPRA syndrome is a rare autosomal recessive mitochondrial disorder caused by mutation in the SARS2 gene encoding seryl-tRNA synthetase (mtSerRS). It includes hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. We present case report of boy aged 1 year 2 months with premature anemia, alkalosis diagnosed syndrome. This disease known to be progressive fatal. A genetic test reveal...
A 46 year old lady presented to her general practitioner with recurrent urinary tract infections. She was subsequently diagnosed a left sided exophytic renal tumour. Subsequent nephrectomy revealed oncocytic tumour which raised clinical concern for the hereditary syndrome of Birt Hogg Dube Syndrome (BHDS). The only family history note cousin who has cysts. Tumour genomic testing somatic mutatio...
Epithelioid glioblastoma is a rare and aggressive variant of that common in children young adults. This frequently has BRAF V600E mutation, recent years, this often treated with mitogen-activated protein kinase inhibitors. An 18-year-old female initially presented headaches vomiting. They were diagnosed an epithelioid temozolomide chemoradiotherapy. Upon progression, they had to redo surgery th...
the 35delg mutation in the connexin 26 gene (cx26), at the dnfb1 locus is the most common mutation in the patients with autosomal recessive non-syndromic hearing loss (arnshl). we have studied a total of 224 deaf cases from 189 families in two populations of iran (sistan va bluchestan and hormozgan provinces) by prescreening nested pcr, polyacrylamide gel electrophoresis and consequent direct s...
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