JASReference:Yamakawa-Kobayashi K:Kobayashi T:Saku K:Arakawa K:Hamaguchi H:,Hum Genet,1993,92,331

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 Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia
Author(s)
 
 
 
 
     (Click a name to see records for each author.)
Journal Human Genetics     
(12 pages)
Year 1993
Volume 92
Page 331

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
LDLR Ins/1247/5 R416fsX12 exon9 Ins/1247/5 R395fsX12 exon9 This page
LDLR Del/1655/T I552TfsX15 exon11 Del/1655/T I531TfsX15 exon11 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。