Splicing mutation of Presenilin-1 gene for early-onset familial Alzheimer's disease

被引：1
作者：
Sato, S
Kamino, K
Miki, T
Doi, A
Ii, K
St George-Hyslop, PH
Ogihara, T
Sakaki, Y
机构：
[1] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Minato Ku, Tokyo 108, Japan
[2] Osaka Univ, Sch Med, Dept Geriatr Med, Osaka 565, Japan
[3] Kawamura Clin, Tokushima 77932, Japan
[4] Univ Tokushima, Sch Med, Dept Pathol 1, Tokushima 770, Japan
[5] Univ Toronto, Ctr Res Neurodegenerat Dis, Dept Med Neurol, Toronto, ON, Canada
[6] Univ Toronto, Ctr Res Neurodegenerat Dis, Dept Med Biophys, Toronto, ON, Canada
来源：
HUMAN MUTATION | 1998年
关键词：
early-onset familial Alzheimer's disease; presenilin-1; gene; splicing;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：S91 / S94
页数：4
相关论文
共 15 条
  • [1] Mutation analysis of presenilin 1 gene in Alzheimer's disease
    Boteva, K
    Vitek, M
    Mitsuda, H
    deSilva, H
    Xu, PT
    Small, G
    Gilbert, JR
    [J]. LANCET, 1996, 347 (8994) : 130 - 131
  • [2] MUTATIONS OF THE PRESENILIN-I GENE IN FAMILIES WITH EARLY-ONSET ALZHEIMERS-DISEASE
    CAMPION, D
    FLAMAN, JM
    BRICE, A
    HANNEQUIN, D
    DUBOIS, B
    MARTIN, C
    MOREAU, V
    CHARBONNIER, F
    DIDIERJEAN, O
    TARDIEU, S
    PENET, C
    PUEL, M
    PASQUIER, F
    LEDOZE, F
    BELLIS, G
    CALENDA, A
    HEILIG, R
    MARTINEZ, M
    MALLET, J
    BELLIS, M
    CLERGETDARPOUX, F
    AGID, Y
    FREBOURG, T
    [J]. HUMAN MOLECULAR GENETICS, 1995, 4 (12) : 2373 - 2377
  • [3] THE STRUCTURE OF THE PRESENILIN-1 (S182) GENE AND IDENTIFICATION OF 6 NOVEL MUTATIONS IN EARLY-ONSET AD FAMILIES
    CLARK, RF
    HUTTON, M
    FULDNER, RA
    FROELICH, S
    KARRAN, E
    TALBOT, C
    CROOK, R
    LENDON, C
    PRIHAR, G
    HE, C
    KORENBLAT, K
    MARTINEZ, A
    WRAGG, M
    BUSFIELD, F
    BEHRENS, MI
    MYERS, A
    NORTON, J
    MORRIS, J
    MEHTA, N
    PEARSON, C
    LINCOLN, S
    BAKER, M
    DUFF, K
    ZEHR, C
    PEREZTUR, J
    HOULDEN, H
    RUIZ, A
    OSSA, J
    LOPERA, F
    ARCOS, M
    MADRIGAL, L
    COLLINGE, J
    HUMPHREYS, C
    ASHWORTH, A
    SARNER, S
    FOX, N
    HARVEY, R
    KENNEDY, A
    ROQUES, P
    CLINE, RT
    PHILLIPS, CA
    VENTER, JC
    FORSELL, L
    AXELMAN, K
    LILIUS, L
    JOHNSTON, J
    COWBURN, R
    VIITANEN, M
    WINBLAD, B
    KOSIK, K
    [J]. NATURE GENETICS, 1995, 11 (02) : 219 - 222
  • [4] MOLECULAR-GENETIC ANALYSIS OF FAMILIAL EARLY-ONSET ALZHEIMERS-DISEASE LINKED TO CHROMOSOME 14Q24.3
    CRUTS, M
    BACKHOVENS, H
    WANG, SY
    VANGASSEN, G
    THEUNS, J
    DEJONGHE, C
    WEHNERT, A
    DEVOECHT, J
    DEWINTER, G
    CRAS, P
    BRUYLAND, M
    DATSON, N
    WEISSENBACH, J
    DENDUNNEN, JT
    MARTIN, JJ
    HENDRIKS, L
    Van Broeckhoven, C
    [J]. HUMAN MOLECULAR GENETICS, 1995, 4 (12) : 2363 - 2371
  • [5] Doi A, 1984, Seishin Shinkeigaku Zasshi, V86, P417
  • [6] ORPHAN PEAK ANALYSIS - A NOVEL METHOD FOR DETECTION OF POINT MUTATIONS USING AN AUTOMATED FLUORESCENCE DNA SEQUENCER
    HATTORI, M
    SHIBATA, A
    YOSHIOKA, K
    SAKAKI, Y
    [J]. GENOMICS, 1993, 15 (02) : 415 - 417
  • [7] Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families
    Kamino, K
    Sato, S
    Sakaki, Y
    Yoshiiwa, A
    Nishiwaki, Y
    Takeda, M
    Tanabe, H
    Nishimura, T
    Ii, K
    StGeorgeHyslop, PH
    Miki, T
    Ogihara, T
    [J]. NEUROSCIENCE LETTERS, 1996, 208 (03) : 195 - 198
  • [8] KAMINO K, 1995, JPN J HUM GENET, V20, P229
  • [9] CANDIDATE GENE FOR THE CHROMOSOME-1 FAMILIAL ALZHEIMERS-DISEASE LOCUS
    LEVYLAHAD, E
    WASCO, W
    POORKAJ, P
    ROMANO, DM
    OSHIMA, J
    PETTINGELL, WH
    YU, CE
    JONDRO, PD
    SCHMIDT, SD
    WANG, K
    CROWLEY, AC
    FU, YH
    GUENETTE, SY
    GALAS, D
    NEMENS, E
    WIJSMAN, EM
    BIRD, TD
    SCHELLENBERG, GD
    TANZI, RE
    [J]. SCIENCE, 1995, 269 (5226) : 973 - 977
  • [10] FAMILIAL ALZHEIMERS-DISEASE IN KINDREDS WITH MISSENSE MUTATIONS IN A GENE ON CHROMOSOME-1 RELATED TO THE ALZHEIMERS-DISEASE TYPE-3 GENE
    ROGAEV, EI
    SHERRINGTON, R
    ROGAEVA, EA
    LEVESQUE, G
    IKEDA, M
    LIANG, Y
    CHI, H
    LIN, C
    HOLMAN, K
    TSUDA, T
    MAR, L
    SORBI, S
    NACMIAS, B
    PIACENTINI, S
    AMADUCCI, L
    CHUMAKOV, I
    COHEN, D
    LANNFELT, L
    FRASER, PE
    ROMMENS, JM
    STGEORGEHYSLOP, PH
    [J]. NATURE, 1995, 376 (6543) : 775 - 778
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