A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency-Reference-Cited by-同舟云学术

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A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency

Published:2007-01-01 Issue:4 Volume:45 Page:
ISSN:1434-6621
Container-title:Clinical Chemical Laboratory Medicine
language:
Short-container-title:

Author:

Bender Bernhard U.,Quaschning Thomas,Neumann Hartmut P.H.,Schmidt Dieter,Kraemer-Guth Annette

Abstract

AbstractClin Chem Lab Med 2007;45:483–6.

Publisher

Walter de Gruyter GmbH

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://www.degruyter.com/document/doi/10.1515/CCLM.2007.102/pdf

Reference27 articles.

1. Structural Differences Between Wild-type and Fish Eye Disease Mutant of Lecithin:cholesterol Acyltransferase

2. Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease

3. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes

4. Familial Plasma Lecithin: Cholesterol Acyltransferase Deficiency Biochemical Study of a New Inborn Error of Metabolism

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency;Journal of Lipid Research;2022-03

2. LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred;Lipids in Health and Disease;2021-07-13

3. Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype;Atherosclerosis;2009-10

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