JASReference:Xiong WJ:Li WH:Posner I:Yamamura T:Yamamoto A:Gotto AM Jr:Chan L:,Am J Hum Genet,1991,48,383

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Title No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency alleles
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Journal American Journal of Human Genetics     
(2 pages)
Year 1991
Volume 48
Page 383

The article reports Japanese and Venezuelan patients with an identical phenotype of 17-amino acid frameshifted phenotype, caused by C deletion at codon 23 or 24.

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference
Del/70/C Q24fsX17 exon3 Del/108/C Q24fsX17 exon3 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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