YUHSpace: Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype

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Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype

Authors: Cheol Whee Park ; Mi-Hyun Lim ; Dong-Ye Youn ; Seung Eun Jung ; Sungjin Chung ; Young Soo Ahn ; Yoon Sik Chang ; Jeong-Hwa Lee

Citation: ATHEROSCLEROSIS, Vol.206(2) : 346-348, 2009

Journal Title: ATHEROSCLEROSIS

ISSN: 0021-9150

Issue Date: 2009

MeSH: Adult ; Corneal Opacity/genetics ; Frameshift Mutation ; Humans ; Lecithin Cholesterol Acyltransferase Deficiency/genetics* ; Male ; Phosphatidylcholine-Sterol O-Acyltransferase/genetics*

Keywords: Familial LCAT deficiency ; LCAT gene mutation ; Compound heterozygous mutation ; High-density lipoprotein

Full Text: http://www.sciencedirect.com/science/article/pii/S0021915009001543

DOI: 10.1016/j.atherosclerosis.2009.03.001

Appears in Collections:: 1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers

Yonsei Authors: Ahn, Young Soo(안영수)

URI: https://ir.ymlib.yonsei.ac.kr/handle/22282913/104441

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