Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344–>Ser)
We investigated the genetic defects in two patients with familial lecithin:cholesterol acyltransferase (LCAT) deficiency. Their clinical manifestations including corneal opacities, anemia, proteinuria, and hypoalphalipoproteinemia were identical for familial LCAT deficiency. Their LCAT activities an...
Main Authors: | K Moriyama, J Sasaki, F Arakawa, N Takami, E Maeda, A Matsunaga, Y Takada, K Midorikawa, T Yanase, G Yoshino |
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Format: | Article |
Language: | English |
Published: |
Elsevier
1995-11-01
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Series: | Journal of Lipid Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S0022227520397145 |
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