Identification of two novel missense mutations (S251F and C283S) in exon 6 of the lipoprotein lipase gene in Japanese subjects

被引:0
|
作者
Ikeda, Y [1 ]
Iwanaga, T [1 ]
Takagi, A [1 ]
机构
[1] Natl Cardiovasc Ctr, Inst Res, Osaka, Japan
关键词
D O I
10.1016/S1567-5688(05)80649-X
中图分类号
R6 [外科学];
学科分类号
1002 ; 100210 ;
摘要
引用
收藏
页码:166 / 166
页数:1
相关论文
共 10 条
  • [1] Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE)
    Noji, Y
    Inazu, A
    Higashirata, T
    Nohara, A
    Kawashiri, M
    Yu, WX
    Todo, Y
    Nozue, T
    Uno, Y
    Hifumi, S
    Mabuchi, H
    INTERNAL MEDICINE, 2004, 43 (12) : 1171 - 1176
  • [2] Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
    Barton, JC
    Sawada-Hirai, R
    Rothenberg, BE
    Acton, RT
    BLOOD CELLS MOLECULES AND DISEASES, 1999, 25 (09) : 146 - 154
  • [3] Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease)
    Takemura, T
    Hino, S
    Ikeda, M
    Okada, M
    Igarashi, T
    Inatomi, J
    Yoshioka, K
    AMERICAN JOURNAL OF KIDNEY DISEASES, 2001, 37 (01) : 138 - 143
  • [4] Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion
    Kayano, S
    Kure, S
    Suzuki, Y
    Kanno, K
    Aoki, Y
    Kondo, S
    Schutte, BC
    Murray, JC
    Yamada, A
    Matsubara, Y
    JOURNAL OF HUMAN GENETICS, 2003, 48 (12) : 622 - 628
  • [5] Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion
    Shuji Kayano
    Shigeo Kure
    Yoichi Suzuki
    Kiyoshi Kanno
    Yoko Aoki
    Shinji Kondo
    Brian C. Schutte
    Jeffrey C. Murray
    Atsushi Yamada
    Yoichi Matsubara
    Journal of Human Genetics, 2003, 48 : 622 - 628
  • [6] Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: Two missense mutations (R45Q and P396S) and a 17-kb deletion.
    Kayano, S
    Kanno, K
    Yamada, A
    Kondo, S
    Schutte, BC
    Murray, JC
    Suzuki, Y
    Kure, S
    Matsubara, Y
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 557 - 557
  • [7] Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers:: potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23
    Hölzl, B
    Kraft, HG
    Wiebusch, H
    Sandhofer, A
    Patsch, J
    Sandhofer, F
    Paulweber, B
    JOURNAL OF LIPID RESEARCH, 2000, 41 (05) : 734 - 741
  • [8] Three novel integrin β3 subunit missense mutations (H280P, C560F, and G579S) in thrombasthenia, including one (H280P) prevalent in Japanese patients
    Ambo, H
    Kamata, T
    Handa, M
    Taki, M
    Kuwajima, M
    Kawai, Y
    Oda, A
    Murata, M
    Takada, Y
    Watanabe, K
    Ikeda, Y
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1998, 251 (03) : 763 - 768
  • [9] d Identification of two novel mutations inverted right perpendicularP122S (364C>T) and 1601delACinverted left perpendicular in the SLC3A1 gene in type I cystinurics
    Gitomer, William L.
    Reed, Berenice Y.
    Pak, Charles Y. C.
    HUMAN MUTATION, 2000, 15 (04) : 390 - +
  • [10] Protein S gene mutation c.946C > T (p.R316C) contributed to ischemic stroke in a man with von Willebrand disease type 3 caused by two novel VWF gene mutations, c.2328delT (p.A778Lfs* 23) and c.6521G > T (p.C2174F)
    Hua, Baolai
    Yan, Xiaobo
    He, Bin
    Shen, Lianjun
    Poon, Man-Chiu
    CLINICAL CASE REPORTS, 2022, 10 (08):