CuZn-superoxide dismutase gene in sporadic amyotrophic lateral sclerosis patients from Russia: Asp90Ala (D90A) mutation and novel rare polymorphism IVS3+35 A>C

被引：0
|
作者：
Slominsky, Petr A. [1 ]
Shadrina, Marya I. [1 ]
Kondratyeva, Ekaterina A. [1 ]
Tupitsina, Tatiana V. [1 ]
Levitsky, Gleb N. [2 ]
Skvortsova, Veronika I. [2 ]
Limborska, Svetlana A. [1 ]
机构：
[1] Russian Acad Sci, Inst Mol Genet, Dept Mol Basis Human Genet, Moscow 123182, Russia
[2] Russian State Med Univ, Course Lab & Funct Diagnost, Dept Neurol, Moscow 117437, Russia
来源：
HUMAN MUTATION | 2000年 / 16卷 / 03期
关键词：
amyotrophic lateral sclerosis; CuZn-superoxide dismutase; SOD1;
D O I：
10.1002/1098-1004(200009)16:3<277::AID-HUMU27>3.0.CO;2-P
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：277 / 278
页数：4
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  • [1] Sporadic amyotrophic lateral sclerosis associated with Asp90Ala CuZn-superoxide dismutase mutations in Russia
    Skvortsova, VI
    Limborskaya, SA
    Slominsky, PA
    Levitskaya, NI
    Levitsky, GN
    Shadrina, MI
    Kondratyeva, EA
    [J]. ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA, 2000, 100 (01): : 44 - 47
  • [2] Asp90Ala (A90D) mutation and novel rare normal polymorphism IVS3+35 AC in Cu-Zn superoxide dismutase gene in sporadic amyotrophic lateral sclerosis patients from Russia.
    Slominsky, PA
    Shadrina, MI
    Kondratyeva, EA
    Tupitsina, TV
    Levitsky, GN
    Skvortsova, VI
    Limborska, SA
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 341 - 341
  • [3] AMYOTROPHIC-LATERAL-SCLEROSIS ASSOCIATED WITH HOMOZYGOSITY FOR AN ASP90ALA MUTATION IN CUZN-SUPEROXIDE DISMUTASE
    ANDERSEN, PM
    NILSSON, P
    ALAHURULA, V
    KERANEN, ML
    TARVAINEN, I
    HALTIA, T
    NILSSON, L
    BINZER, M
    FORSGREN, L
    MARKLUND, SL
    [J]. NATURE GENETICS, 1995, 10 (01) : 61 - 66
  • [4] Sporadic amyotrophic lateral sclerosis with the D90A mutation of CuZn-superoxide dismutase gene and the 'protective' Scandinavian haplotype
    Levitsky, G. N.
    Alekhin, A. V.
    Shadrina, M. L.
    Levitskaya, N. I.
    Slominsky, P. A.
    Limborska, S. A.
    Skvortsova, V. I.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2004, 11 : 324 - 324
  • [5] Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation - A clinical and genealogical study of 36 patients
    Andersen, PM
    Forsgren, L
    Binzer, M
    Nilsson, P
    AlaHurula, V
    Keranen, ML
    Bergmark, L
    Saarinen, A
    Haltia, T
    Tarvainen, I
    Kinnunen, E
    Udd, B
    Marklund, SL
    [J]. BRAIN, 1996, 119 : 1153 - 1172
  • [6] Preserved slow conducting corticomotoneuronal projections in amyotrophic lateral sclerosis with autosomal recessive D90A CuZn-superoxide dismutase mutation
    Weber, M
    Eisen, A
    Stewart, HG
    Andersen, PM
    [J]. BRAIN, 2000, 123 : 1505 - 1515
  • [7] Heterozygosity for the D90A mutation in the superoxide dismutase gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
    Robberecht, W
    Aguirre, T
    vandenBossch, L
    Matthijs, G
    Cassiman, JJ
    [J]. NEUROLOGY, 1996, 46 (02) : 5020 - 5020
  • [8] A screening for Superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis
    Mancuso, M
    Filosto, M
    Naini, A
    Rocchi, A
    Del Corona, A
    Sartucci, F
    Siciliano, G
    Murri, L
    [J]. AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS, 2002, 3 (04): : 215 - 218
  • [9] Autosomal recessive adult-onset amylotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients (vol 119, pg 1153, 1996)
    Anderson, PM
    [J]. BRAIN, 1998, 121 : 187 - 187
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