A novel apolipoprotein E5 variant with a 24-bp insertion causing hyperlipidemia
نویسندگان
چکیده
منابع مشابه
A novel 110-bp insertion in a patient with homocysteinuria.
Homocysteinuria is an inherited recessive disorder caused by cystathionine beta-synthase (CBS) deficiency that has a wide spectrum of clinical manifestations, including ocular lens dislocation, skeletal disproportion, osteoporosis, vascular thrombosis, and central nervous system dysfunction [1]. The CBS enzyme catalyzes the synthesis of cystathionine from homocysteine and serine in the methioni...
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We present a variant of back propagation, which trains faster, gets caught in local minima less frequently, generalizes better for a given amount of training, and is specifically adapted to pattern recognition problems. We demonstrate our claims by simulations of an archetypal classification task.
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To the Editor: Systemic amyloidosis is characterized by the extracellular deposition of misfolded proteins as insoluble amyloid fibrils in various tissues. The familial forms of amyloidosis (AF) comprise a group of autosomal dominant diseases associated with mutations in a number of genes encoding amyloid precursor proteins. These diseases collectively exhibit various phenotypes, including ages...
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A 24-year-old male was found to have recurrent epididymitis secondary to ectopic ureteral insertion to the seminal vesicle. His ipsilateral kidney was atrophic and ectopic in the pelvis, suggesting a complex failure of embryological development. He was successfully treated with robot-assisted laparoscopic nephroureterectomy.
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OBJECTIVE To investigate a novel insertion variant of CRYGD identified in a Chinese family with nuclear congenital cataract. METHODS A Chinese family with congenital nuclear cataract was recruited for the mutational screening of candidate genes by direct sequencing. Recombinant N-terminal Myc tagged wildtype or mutant CRYGD was expressed in HEK293T cells. The expression pattern, protein solub...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2001
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s100380170014