A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD). - Suppr | 超能文献

A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD).

作者信息

Wiebusch H, Muntoni S, Funke H, Lu F, Seedorf U, Oberle S, Schwarzer U, Assmann G

机构信息

Institut für Klinische Chemie und Laboratoriumsmedizin, Zentrallaboratorium, Münster, Germany.

出版信息

Clin Genet. 1996 Aug;50(2):106-7.

Abstract

摘要

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A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD).

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Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.溶酶体酸性脂肪酶组氨酸-108位点的不同错义突变在不相关的复合杂合子和半合子个体中导致胆固醇酯贮积病。

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A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.一名患有胆固醇酯贮积病患者的新型溶酶体酸性脂肪酶基因突变。

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A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.在一名患有胆固醇酯贮积病的患者中，剪接连接突变导致溶酶体酸性脂肪酶的mRNA缺失一个72个碱基的外显子。

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A novel missense LIPA gene mutation, N98S, in a patient with cholesteryl ester storage disease.一名患有胆固醇酯贮积病的患者中发现一种新的LIPA基因错义突变，N98S。

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Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.胆固醇酯贮积病中溶酶体酸性脂肪酶的分子与酶学分析

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Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.遗传和生化证据表明，CESD和沃尔曼病可通过残余溶酶体酸性脂肪酶活性加以区分。

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Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).在一个患有胆固醇酯贮积病（CESD）的西班牙家族中，编码溶酶体酸性脂肪酶的基因外显子8中的剪接连接突变纯合性。

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A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.溶酶体酸性脂肪酶中组氨酸被酪氨酸取代会导致胆固醇酯贮积病。

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