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A novel mutation ApoE2 kurashiki (R158P) in a patient with lipoprotein glomerulopathy
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نویسنده
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tokura t. ,itano s. ,kobayashi s. ,kuwabara a. ,fujimoto s. ,horike h. ,satoh m. ,komai n. ,tomita n. ,matsunaga a. ,saito t. ,sasaki t. ,kashihara n.
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منبع
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journal of atherosclerosis and thrombosis - 2011 - دوره : 18 - شماره : 6 - صفحه:536 -541
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چکیده
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Lipoprotein glomerulopathy (lpg) is a rare glomerulopathy caused by lipoprotein thrombi. in almost all cases of lpg,several apolipoprotein (apo) e mutations were reported. here,we present a case of lpg caused by a novel mutation that we named apoe2 kurashiki,which substitutes arginine with proline at apoe codon 158. apoe2 polymorphism is well known for its relationship to type iii hyperlipoproteinemia,and the common apoe2 isoform is encoded by the r158c allele. apoe2 kurashiki substitutes at the same codon and cannot be distinguished from common apoe2 by standard apoe genotyping or phenotyping.
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کلیدواژه
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ApoE2; Lipoprotein glomerulopathy; Mutation
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آدرس
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division of nephrology and hypertension,department of internal medicine,kawasaki medical school,okayama, Japan, division of nephrology and hypertension,department of internal medicine,kawasaki medical school,okayama, Japan, division of nephrology and hypertension,department of internal medicine,kawasaki medical school,okayama, Japan, division of nephrology and hypertension,department of internal medicine,kawasaki medical school,okayama, Japan, division of nephrology and hypertension,department of internal medicine,kawasaki medical school,okayama, Japan, division of nephrology and hypertension,department of internal medicine,kawasaki medical school,okayama, Japan, division of nephrology and hypertension,department of internal medicine,kawasaki medical school,okayama, Japan, division of nephrology and hypertension,department of internal medicine,kawasaki medical school,okayama, Japan, division of nephrology and hypertension,department of internal medicine,kawasaki medical school,okayama, Japan, department of laboratory medicine,fukuoka university school of medicine,fukuoka, Japan, division of nephrology and rheumatology,department of internal medicine and fukuoka university,school of medicine,fukuoka, Japan, division of nephrology and hypertension,department of internal medicine,kawasaki medical school,okayama, Japan, division of nephrology and hypertension,department of internal medicine,kawasaki medical school,okayama, Japan
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Authors
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