Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.

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作者信息

Wiebusch H, Cullen P, Owen J S, Collins D, Sharp P S, Funke H, Assmann G

机构信息

Institut für Arterioskleroseforschung an der Universität Münster, Germany.

出版信息

Hum Mol Genet. 1995 Jan;4(1):143-5. doi: 10.1093/hmg/4.1.143.

DOI:10.1093/hmg/4.1.143

PMID:7711728

Abstract

摘要

相似文献

Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.

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Identification of the homozygous missense mutation in the lecithin:cholesterol-acyltransferase (LCAT) gene, causing LCAT familial deficiency in two French patients.在两名法国患者中鉴定出卵磷脂胆固醇酰基转移酶（LCAT）基因的纯合错义突变，该突变导致LCAT家族性缺乏。

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