نتایج جستجو برای: somatic mutation
تعداد نتایج: 325275 فیلتر نتایج به سال:
The development of molecular studies to define the somatic genetic alterations has revolutionized diagnostic and therapeutic management acute myeloid leukemia (AML). AML is a highly heterogenous disease that includes many subtypes; each subtype heterogeneous both for presence variable co-mutations complex combinations clones subclones, changing during evolution in response treatment. treatment ...
Recently somatic mutations of KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been identified in patients with aldosterone-producing adenoma (APA). The present study sequenced the DNA in the tissues and blood samples from Chinese patients with APA for KCNJ5, ATP1A1, ATP2B3, and CACNA1D gene mutations.Among the 114 patients, 86 (75.4%) were identified with KCNJ5 somatic mutations, including 3 previously...
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...
To study the biology of cold agglutinin disease we previously established EBV-transformed B cell clones isolated from a patient with splenic lymphoma of an early plasmacytic cell type and immune hemolysis due to an anti-Pr2 cold agglutinin. These clones had an aberrant chromosomal marker identical to the patient's B cell lymphoma and each secreted IgMk anti-Pr2 similar to the pathologic autoant...
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