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Asako Horinishi

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Minoru Okubo; Asako Horinishi; Mieko Saito; Tetsu Ebara; Yoriko Endo; Kohei Kaku; Toshio Murase; Masaaki Eto
A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency.
Yoriko Endo; Asako Horinishi; Matthias Vorgerd; Yoshiko Aoyama; Tetsu Ebara; Toshio Murase; Masato Odawara; Teodor Podskarbi; Yoon S Shin; Minoru Okubo
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.
Yoriko Endo; Ekram Fateen; Yoshiko Aoyama; Asako Horinishi; Tetsu Ebara; Toshio Murase; Yoon S Shin; Minoru Okubo
Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.

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2007: Minoru Okubo; Asako Horinishi; Mieko Saito; Tetsu Ebara; Yoriko Endo; Kohei Kaku; Toshio Murase; Masaaki Eto
A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency.
Molecular genetics and metabolism 2007;92(3):229-33.
2006: Yoriko Endo; Asako Horinishi; Matthias Vorgerd; Yoshiko Aoyama; Tetsu Ebara; Toshio Murase; Masato Odawara; Teodor Podskarbi; Yoon S Shin; Minoru Okubo
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.
Journal of human genetics 2006;51(11):958-63.
2005: Yoriko Endo; Ekram Fateen; Yoshiko Aoyama; Asako Horinishi; Tetsu Ebara; Toshio Murase; Yoon S Shin; Minoru Okubo
Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.
Journal of human genetics 2005;50(10):538-42.
2002: Minoru Okubo; Asako Horinishi; Dong-Ho Kim; Tokuo T Yamamoto; Toshio Murase
Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene.
Human mutation 2002;19(2):186.
2002: Asako Horinishi; Minoru Okubo; Nelson Tang; Joannie Hui; Ka-Fai To; Tomohito Mabuchi; Toshihide Okada; Hiroshi Mabuchi; Toshio Murase
Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.
Journal of human genetics 2002;47(2):55-9.
2001: Tetsu Ebara; Minoru Okubo; Asako Horinishi; M Adachi; Toshio Murase; T Hirano
No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61-->stop) in the lipoprotein lipase gene.
Atherosclerosis 2001;159(2):375-9.
2000: Asako Horinishi; Toshio Murase; Minoru Okubo
Novel intronic polymorphisms (IVS6-73A/G and IVS21+124A/G) in the glycogen-debranching enzyme (AGL) gene.
Human mutation 2000;16(3):279.
2000: Minoru Okubo; Asako Horinishi; Y Suzuki; Toshio Murase; K Hayasaka
Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.
American journal of medical genetics 2000;93(3):211-4.
2000: Minoru Okubo; Asako Horinishi; M Takeuchi; Y Suzuki; N Sakura; Y Hasegawa; T Igarashi; K Goto; H Tahara; S Uchimoto; K Omichi; H Kanno; K Hayasaka; Toshio Murase
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.
Human genetics 2000;106(1):108-15.
1999: Minoru Okubo; F Kanda; Asako Horinishi; K Takahashi; S Okuda; K Chihara; Toshio Murase
Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.
Human mutation 1999;14(6):542-3.
1998: Minoru Okubo; Asako Horinishi; N Nakamura; Yoshiko Aoyama; M Hashimoto; Yoriko Endo; Toshio Murase
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
Human genetics 1998;102(1):1-5.