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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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