SMN2 deletion in childhood-onset spinal muscular atrophy

被引：3
作者：
Cobben, JM
de Visser, M
机构：
[1] Free Univ Amsterdam, Med Ctr, Dept Clin Genet, NL-1007 MB Amsterdam, Netherlands
[2] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1105 AZ Amsterdam, Netherlands
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 109卷 / 03期
关键词：
D O I：
10.1002/ajmg.10354
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：246 / 246
页数：1
相关论文
共 5 条
  • [1] IDENTIFICATION AND CHARACTERIZATION OF A SPINAL MUSCULAR ATROPHY-DETERMINING GENE
    LEFEBVRE, S
    BURGLEN, L
    REBOULLET, S
    CLERMONT, O
    BURLET, P
    VIOLLET, L
    BENICHOU, B
    CRUAUD, C
    MILLASSEAU, P
    ZEVIANI, M
    LEPASLIER, D
    FREZAL, J
    COHEN, D
    WEISSENBACH, J
    MUNNICH, A
    MELKI, J
    [J]. CELL, 1995, 80 (01) : 155 - 165
  • [2] Munsat T.L., 1992, NEUROMUSCULAR DISORD, V2, P423
  • [3] Proximal and distal spinal muscular atrophy in one family: Molecular genetic studies provide further evidence for the non-allelic origin of both diseases
    Spranger, S
    RudnikSchoneborn, S
    Spranger, M
    Schachtele, M
    Zerres, K
    Wirth, B
    [J]. JOURNAL OF MEDICAL GENETICS, 1997, 34 (04) : 340 - 342
  • [4] SMN2-Deletion in childhood-onset spinal muscular atrophy
    Srivastava, S
    Mukherjee, M
    Panigrahi, I
    Pandey, GS
    Pradhan, S
    Mittal, B
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 101 (03): : 198 - 202
  • [5] Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS
    Veldink, JH
    van den Berg, LH
    Cobben, JM
    Stulp, RP
    De Jong, JMBV
    Vogels, OJ
    Baas, F
    Wokke, JHJ
    Scheffer, H
    [J]. NEUROLOGY, 2001, 56 (06) : 749 - 753
1