JASReference:Huang W:Moriyama K:Koga T:Hua H:Ageta M:Kawabata S:Mawatari K:Imamura T:Eto T:Kawamura M:Teramoto T:Sasaki J:,Biochim Biophys Acta,2001,1537,71

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Title	Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease
Author(s)	Huang_W   Moriyama_K   Koga_T   Hua_H   Ageta_M   Kawabata_S   Mawatari_K   Imamura_T   Eto_T   Kawamura_M   Teramoto_T   Sasaki_J  　  　(Click a name to see records for each author.)
Journal	Biochimica et Biophysica Acta      Other reports in this journal (9 pages)
Year	2001
Volume	1537
Page	71

G596A mutation in exon 7 was also reported but it is a polymorphism also found in control subjects.

Genetic mutations in this article

Reported Mutations (notation help)
Gene Mutation Effect Position Original Information in the Paper Reference ABCA1 Del/3672/CGCC R1224fsX15 exon27 Del/3787/CGCC premature_stop_at_1224 exon27 This page ABCA1 Mut/3685/G-A D1229N exon27 Mut/3805/G-A D1229N exon27 This page ABCA1 Mut/6061/C-T R2021W exon47 Mut/6181/C-T R2021W exon47 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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