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: Difference between revisions

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(Created page with "{{JASReference|mutation= &&ABCA1/Del/Ex49/In12-In14 &&ABCA1/Del/Ex49/In16-In31 &&ABCA1/Mut/2803/A-C &&ABCA1/Mut/2804/A-G |title=Double deletions and missense mutations in the fir...")
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{{JASReference|mutation=
{{JASReference|mutation=
ABCA1/Del/Ex49/In12-In14
&&ABCA1/Del/Ex49/In12-In14
ABCA1/Del/Ex49/In16-In31
&&ABCA1/Del/Ex49/In16-In31
ABCA1/Mut/2803/A-C
&&ABCA1/Mut/2803/A-C
ABCA1/Mut/2804/A-G
&&ABCA1/Mut/2804/A-G
|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
|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
|doi=10.1007/s100380200044
|doi=10.1007/s100380200044
|pmid=12111381
|pmid=12111381
}}
}}

Revision as of 00:00, 19 July 2012

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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
Del/Ex49/In12-In14 This page
Del/Ex49/In16-In31 This page
Mut/2803/A-C This page
Mut/2804/A-G This page


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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。