Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: Identification of two novel mutations

被引:5
|
作者
Kurosawa, K
Ida, H
Eto, Y
机构
[1] Jikei Univ, Sch Med, Dept Pediat, Minato Ku, Tokyo 105, Japan
[2] Jikei Univ, Sch Med, Dept Gene Therapy, Inst DNA Med, Tokyo, Japan
关键词
D O I
10.1023/A:1005405418215
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:781 / 782
页数:2
相关论文
共 50 条
  • [31] SIMULTANEOUS DETECTION OF THE 2 MOST FREQUENT METACHROMATIC LEUKODYSTROPHY MUTATIONS
    BERNHEIMER, H
    BERGER, J
    MOLZER, B
    JOURNAL OF NEUROCHEMISTRY, 1994, 62 : S105 - S105
  • [32] Mutations associated with very late-onset metachromatic leukodystrophy
    Perusi, C
    Lira, MG
    Duyff, RF
    Weinstein, HC
    Pignatti, PF
    Rizzuto, N
    Salviati, A
    CLINICAL GENETICS, 1999, 55 (02) : 130 - 130
  • [33] Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients
    Hiroyuki Ikeda
    Y. Matsubara
    Hitoshi Mikami
    Shigeo Kure
    Misao Owada
    Tamara Gough
    Peter M. Smooker
    Marion Dobbs
    Hans-Henrik M. Dahl
    Richard G. H. Cotton
    Kuniaki Narisawa
    Human Genetics, 1997, 100 : 637 - 642
  • [34] Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients
    Ikeda, H
    Matsubara, Y
    Mikami, H
    Kure, S
    Owada, M
    Gough, T
    Smooker, PM
    Dobbs, M
    Dahl, HHM
    Cotton, RGH
    Narisawa, K
    HUMAN GENETICS, 1997, 100 (5-6) : 637 - 642
  • [35] GJB2 mutations in Turkish patients with ARNSHL:: prevalence and two novel mutations
    Kalay, E
    Caylan, R
    Kremer, H
    de Brouwer, APM
    Karaguzel, A
    HEARING RESEARCH, 2005, 203 (1-2) : 88 - 93
  • [36] Two novel mutations detected in Japanese patients with oculocutaneous albinism
    Ito, Shiro
    Suzuki, Tamio
    Inagaki, Katsuhiko
    Suzuki, Noriyuki
    Kono, Michihiro
    Tomita, Yasushi
    Iwamoto, Takao
    Mochizuki, Narutaka
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2006, 44 (02) : 116 - 118
  • [37] Missense mutations as a cause of metachromatic leukodystrophy -: Degradation of arylsulfatase A in the endoplasmic reticulum
    Poeppel, P
    Habetha, M
    Marcao, A
    Büssow, H
    Berna, L
    Gieselmann, V
    FEBS JOURNAL, 2005, 272 (05) : 1179 - 1188
  • [38] Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: Identification of four novel mutations
    Ida, H
    Rennert, OM
    Kawame, H
    Maekawa, K
    Eto, Y
    JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (01) : 67 - 73
  • [39] MUCOPOLYSACCHARIDOSIS TYPE VI: IDENTIFICATION OF NOVEL MUTATIONS ON THE ARYLSULPHATASE B GENE IN SOUTH-AMERICAN PATIENTS
    Petry, M.
    Nonemacher, K.
    Sebben, J.
    Schwartz, I. V.
    Azevedo, A. C.
    Burin, M.
    Rezende, A.
    Kim, C.
    Giugliani, T.
    Leistner-Segal, S.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 191 - 191
  • [40] Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease:: Identification of 11 novel mutations
    Alfonso, P
    Cenarro, A
    Pérez-Calvo, JI
    Giralt, M
    Giraldo, P
    Pocoví, M
    BLOOD CELLS MOLECULES AND DISEASES, 2001, 27 (05) : 882 - 891