JASReference:Guo Z:Inazu A:Yu W:Suzumura T:Okamoto M:Nohara A:Higashikata T:Sano R:Wakasugi K:Hayakawa T:Yoshida K:Suehiro T:Schmitz G:Mabuchi H:,J Hum Genet,2002,47,325

Details

NOTE: If you newly created/edited a reference page, please click all authors' links to check their information. If this reference contains an error, please use Template:IncorrectReference to report the discrepancy.


Title Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease
Author(s)
 
 
 
 
 
 
 
 
 
 
 
 
 
     (Click a name to see records for each author.)
Journal Journal of Human Genetics     
(8 pages)
Year 2002
Volume 47
Page 325

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Mut/2803/A-C N935H exon19 Mut/3198/A-C N935H exon19 This page
Mut/2804/A-G N935S exon19 Mut/3199/A-G N935S exon19 This page
Del/In12-In14/1221bp - exon13-14 This page
Del/In16-In31/19.9kb - exon17-31 This page


How to input/edit information?

Account Information

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。

Format of the page

The format of the page title is here. The format of mutation information is here.

ページタイトルの書式(書き方)はここにあります。遺伝子変異情報の書式(書き方)はここにあります。