Identification of twelve new arylsulfatase A gene mutations in metachromatic leukodystrophy (MILD) patients.

被引：0
|
作者：
Waye, JS
Eng, B
Nakamura, LM
Schokman, N
O'Reilly, N
Nowaczyk, MJM
机构：
[1] McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada
[2] Hamilton Reg Lab Med Program, Hamilton, ON, Canada
[3] McMaster Univ, Dept Pediat, Hamilton, ON, Canada
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
1508
引用
收藏
页码：428 / 428
页数：1
相关论文
共 50 条
  • [1] MUTATIONS IN THE ARYLSULFATASE A GENE OF JAPANESE PATIENTS WITH METACHROMATIC LEUKODYSTROPHY
    HASEGAWA, Y
    KAWAME, H
    ETO, Y
    DNA AND CELL BIOLOGY, 1993, 12 (06) : 493 - 498
  • [2] MUTATIONS IN THE ARYLSULFATASE-A GENE OF 2 PATIENTS WITH METACHROMATIC LEUKODYSTROPHY
    HONKE, K
    KOBAYASHI, T
    KONDO, R
    TSUJI, S
    MAKITA, A
    GLYCOCONJUGATE JOURNAL, 1993, 10 (04) : 241 - 241
  • [3] Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)
    Dorboz, Imen
    Eymard-Pierre, Eleonore
    Kefi, Rym
    Abdelhak, Sonia
    Miladi, Najoua
    Boespflug-Tanguy, Odile
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 287 (1-2) : 278 - 280
  • [4] Identification of three novel arylsulfatase A mutations as a cause of metachromatic leukodystrophy
    Önder, E.
    Sinici, I.
    Sönmez, F. M.
    Topçu, M.
    Özkara, H. A.
    FEBS JOURNAL, 2006, 273 : 242 - 242
  • [5] Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy
    Luzi, Paola
    Rafi, Mohammad A.
    Rao, Han Zhi
    Wenger, David A.
    GENE, 2013, 530 (02) : 323 - 328
  • [6] MISSENSE MUTATIONS IN THE ARYLSULFATASE-A GENES OF METACHROMATIC LEUKODYSTROPHY PATIENTS
    BARTH, ML
    FENSOM, A
    HARRIS, A
    HUMAN MOLECULAR GENETICS, 1993, 2 (12) : 2117 - 2121
  • [7] Occurrence, distribution, and phenotype of arylsulfatase a mutations in patients with metachromatic leukodystrophy
    Berger, J
    Loschl, B
    Bernheimer, H
    Lugowska, A
    TylkiSzymanska, A
    Gieselmann, V
    Molzer, B
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 69 (03): : 335 - 340
  • [8] Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy
    Olkhovich, NV
    Takamura, N
    Pichkur, NA
    Gorovenko, NG
    Aoyagi, K
    Yamashita, S
    MOLECULAR GENETICS AND METABOLISM, 2003, 80 (03) : 360 - 363
  • [9] Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy
    Oender, Evren
    Sinici, Incilay
    Soenmez, F. Muejgan
    Topcu, Meral
    Oezkara, H. Asuman
    NEUROLOGICAL RESEARCH, 2009, 31 (01) : 60 - 66
  • [10] PREVALENCE OF COMMON MUTATIONS IN THE ARYLSULFATASE-A GENE IN METACHROMATIC LEUKODYSTROPHY PATIENTS DIAGNOSED IN BRITAIN
    BARTH, ML
    FENSOM, A
    HARRIS, A
    HUMAN GENETICS, 1993, 91 (01) : 73 - 77
12345