JASReference:Bujo H:Kusunoki J:Ogasawara M:Yamamoto T:Ohta Y:Shimada T:Saito Y:Yoshida S:,Biochem Biophys Res Commun,1991,181,933

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Title Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease
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Journal Biochemical and Biophysical Research Communications     
(8 pages)
Year 1991
Volume 181
Page 933

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Ins/102/C H55fsX7 exon1 Ins/124/C - exon1 This page


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This database is maintained by the subcommittee for Lipid Metabolism in Japan Atherosclerosis Society. If you volunteer to contribute, please contact arita AT k.u-tokyo.ac.jp.

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