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
  • [41] MUTATIONS OF ARYLSULFASE-A (ASA) GENE IN METACHROMATIC LEUKODYSTROPHY
    ETO, Y
    HASEGAWA, Y
    KAWAME, H
    OHASHI, T
    IDA, H
    JOURNAL OF NEUROCHEMISTRY, 1993, 61 : S101 - S101
  • [42] Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: Identification of two novel mutations
    Kurosawa, K
    Ida, H
    Eto, Y
    JOURNAL OF INHERITED METABOLIC DISEASE, 1998, 21 (07) : 781 - 782
  • [43] Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
    Stefano Regis
    Fabio Corsolini
    Marina Stroppiano
    Roberto Cusano
    Mirella Filocamo
    Human Genetics, 2002, 110 : 351 - 355
  • [44] Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
    Regis, S
    Corsolini, F
    Stroppiano, M
    Cusano, R
    Filocamo, M
    HUMAN GENETICS, 2002, 110 (04) : 351 - 355
  • [45] RAPID MOLECULAR DIAGNOSIS OF MUTATIONS CAUSING METACHROMATIC LEUKODYSTROPHY AND PSEUDO-DEFICIENCY OF ARYLSULFATASE-A
    BENYOSEPH, Y
    MITCHELL, DA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 890 - 890
  • [46] Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
    Narayanan, Dhanya Lakshmi
    Matta, Divya
    Gupta, Neerja
    Kabra, Madhulika
    Ranganath, Prajnya
    Aggarwal, Shagun
    Phadke, Shubha R.
    Datar, Chaitanya
    Gowrishankar, Kalpana
    Kamate, Mahesh
    Jain, Jamal Mohammed Nurul
    Dalal, Ashwin
    JOURNAL OF HUMAN GENETICS, 2019, 64 (04) : 323 - 331
  • [47] Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
    Dhanya Lakshmi Narayanan
    Divya Matta
    Neerja Gupta
    Madhulika Kabra
    Prajnya Ranganath
    Shagun Aggarwal
    Shubha R. Phadke
    Chaitanya Datar
    Kalpana Gowrishankar
    Mahesh Kamate
    Jamal Mohammed Nurul Jain
    Ashwin Dalal
    Journal of Human Genetics, 2019, 64 : 323 - 331
  • [48] METACHROMATIC LEUKODYSTROPHY - A NONSENSE MUTATION (Q(486)X) IN THE ARYLSULFATASE-A (ARSA) GENE
    HARVEY, JS
    CAREY, WF
    NELSON, PV
    MORRIS, CP
    HUMAN MOLECULAR GENETICS, 1994, 3 (01) : 207 - 207
  • [49] Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy
    Fathi, Mohadeseh
    Khalilian, Sheyda
    Miryounesi, Mohammad
    Ghafouri-Fard, Soudeh
    BIOCHEMICAL GENETICS, 2025,
  • [50] Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis
    Xu, Lulu
    Zhong, Meixiang
    Wang, Yajuan
    Wang, Zhihong
    Song, Jie
    Zhao, Jing
    Yu, Hongyun
    Yang, Zhencui
    Yan, Wenjing
    Zheng, Xueping
    FRONTIERS IN NEUROLOGY, 2021, 11
12345