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A novel Thr56Met mutation of the autosomal recessive hypercholesterolemia gene associated with hypercholesterolemia.

Authors
  • Harada, Koji
  • Miyamoto, Yoshihiro
  • Morisaki, Hiroko
  • Ohta, Naotaka
  • Yamanaka, Itaru
  • Kokubo, Yoshihiro
  • Makino, Hisashi
  • Harada-Shiba, Mariko
  • Okayama, Akira
  • Tomoike, Hitonobu
  • Okamura, Tomonori
  • Tomonori, Okamura
  • Saito, Yoshihiko
  • Yoshimasa, Yasunao
  • Morisaki, Takayuki
Type
Published Article
Journal
Journal of atherosclerosis and thrombosis
Publication Date
Feb 26, 2010
Volume
17
Issue
2
Pages
131–140
Identifiers
PMID: 20124734
Source
Medline
License
Unknown

Abstract

Because the Thr56Met missense mutation occurs in an orthologously conserved functional domain and all subjects with the mutation had hypercholesterolemia resembling familiar hypercholesterolemia, it may be a cause of familial hypercholesterolemia.

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