نتایج جستجو برای: missense mutation
تعداد نتایج: 293819 فیلتر نتایج به سال:
Although most of the known pathogenic mutations in the progranulin gene (PGRN) are null mutations leading to a reduction in the serum PGRN protein levels, missense mutations also have been identifi ed in patients with frontotemporal lobar degeneration and in patients with Alzheimer disease. Among these, p.R564C mutation was identifi ed in a late-onset AD patient with a reduced serum PGRN level....
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...
Extensive genomic profiling for endometrioid endometrial carcinoma (EEC) has pointed to genes and pathways important in uterine development as critical mediators of endometrial tumorigenesis. SOX17 is a developmental transcription factor necessary for proper endoderm formation that has been implicated as a tumor suppressor and shown to modulate WNT signaling. SOX17 mutation analysis in 539 prim...
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