Mutation Report for: R23fsX76_human-LCATR23fsX76_human-LCAT Gene_Locus | | | human-LCAT |
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Mode of mutation | | | Natural mutant |
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Amino Acid change | | | |
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Torpedo number | | | |
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Summary | | | |
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Comment | | | c.141-145del Exon 1 Phenotype (LCATD) |
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Kinetic parameters | | | none |
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References:
Title: A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene
Frasca GM, Soverini L, Tampieri E, Franceschini G, Calabresi L, Pisciotta L, Preda P, Vangelista A, Stefoni S, Bertolini S
Ref: Nephrol Dial Transplant, 19:1622, 2004 : PubMed
        
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