Detection of a mutation in a human LCAT gene
LCAT deficiency is a rare autosomal recessive disease characterized by low levels of plasma HDL and an inability of the enzyme lecithin:cholesterol acyltransferase (LCAT) to esterify cholesterol. An understanding of the structure and function of the LCAT protein will add significantly to the underst...
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| Language: | English |
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University of British Columbia
2010
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| Online Access: | http://hdl.handle.net/2429/27958 |