JASReference:Ishii J:Nagano M:Kujiraoka T:Ishihara M:Egashira T:Takada D:Tsuji M:Hattori H:Emi M:,J Hum Genet,2002,47,366

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Title Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis
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Journal Journal of Human Genetics     
(8 pages)
Year 2002
Volume 47
Page 366

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/5038/C-T R1680W exon37 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.

このデータベースは日本動脈硬化学会 脂質代謝部会が作成しています。入力等に協力していただける方は有田 arita AT k.u-tokyo.ac.jp までご連絡下さい。

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