A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria

被引：0
|
作者：
Yoshihiro Maruo
Masafumi Suzaki
Katsuyuki Matsui
Yu Mimura
Asami Mori
Haruo Shintaku
Yoshihiro Takeuchi
机构：
[1] Shiga University of Medical Science,Department of Pediatrics
[2] Shiga University of Medical Science,Central Research Laboratory
[3] Osaka City University Graduate School of Medicine,Department of Pediatrics
来源：
World Journal of Pediatrics | 2015年 / 11卷
关键词：
large deletion; multiplex ligation-dependent probe amplification; phenylalanine hydroxylase; phenylketonuria;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：181 / 184
页数：3
相关论文
共 45 条
  • [1] A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria
    Maruo, Yoshihiro
    Suzaki, Masafumi
    Matsui, Katsuyuki
    Mimura, Yu
    Mori, Asami
    Shintaku, Haruo
    Takeuchi, Yoshihiro
    WORLD JOURNAL OF PEDIATRICS, 2015, 11 (02) : 181 - 184
  • [2] Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome
    Sakamoto, O
    Kitoh, T
    Ohura, T
    Ohya, N
    Iinuma, K
    JOURNAL OF HUMAN GENETICS, 2002, 47 (05) : 229 - 231
  • [3] Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome
    O. Sakamoto
    T. Kitoh
    T. Ohura
    N. Ohya
    K. Iinuma
    Journal of Human Genetics, 2002, 47 : 229 - 231
  • [4] Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure
    Nasr, SZ
    Strong, TV
    Mansoura, MK
    Dawson, DC
    Collins, FS
    HUMAN MUTATION, 1996, 7 (02) : 151 - 154
  • [5] A novel mutation P126R, in a Japanese patient with HHH syndrome
    Miyamoto, T
    Kanazawa, N
    Hayakawa, C
    Tsujino, S
    PEDIATRIC NEUROLOGY, 2002, 26 (01) : 65 - 67
  • [6] A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)
    Kato, A
    Fukai, K
    Oiso, N
    Hosomi, N
    Saitoh, S
    Wada, T
    Shimizu, H
    Ishii, M
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2003, 31 (03) : 189 - 192
  • [7] Inherited factor V deficiency associated with a novel heterozygous missense mutation (p.G493R) in a patient with excessive surgical bleeding
    Kovacs, Kitti B.
    Tisza, Bernadett
    Komaromi, Istvan
    Muszbek, Laszlo
    Bereczky, Zsuzsanna
    THROMBOSIS AND HAEMOSTASIS, 2009, 102 (04) : 787 - 789
  • [8] Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P
    Fukutomi, Motoki
    Tanaka, Nobuaki
    Uchinoumi, Hitoshi
    Kanemoto, Masashi
    Nakao, Fumiaki
    Yamada, Jutaro
    Kamei, Toshiaki
    Takenaka, Toshihiro
    Fujii, Takashi
    JOURNAL OF CARDIOLOGY, 2013, 62 (1-2) : 63 - 69
  • [9] A compound heterozygote for a novel missense mutation (G 105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia
    Ikeda, Y
    Goji, K
    Takagi, A
    CLINICAL SCIENCE, 2000, 99 (06) : 569 - 578
  • [10] A missense mutation c.G2747A (p.R916Q) of ADAR1 gene in dyschromatosis symmetrica hereditaria is not a novel mutation
    Hayashi, Masahiro
    Suzuki, Tamio
    ARCHIVES OF DERMATOLOGICAL RESEARCH, 2010, 302 (06) : 481 - 482
12345