A NEW MISSENSE MUTATION IN GLUCOCEREBROSIDASE EXON-9 OF A NON-JEWISH CAUCASIAN TYPE-1 GAUCHER DISEASE PATIENT

被引：13
|
作者：
CHOY, FYM
WEI, C
APPLEGARTH, DA
YONG, SL
机构：
[1] UNIV BRITISH COLUMBIA,DEPT PEDIAT,VANCOUVER V6T 1W5,BC,CANADA
[2] BRITISH COLUMBIA CHILDRENS HOSP,BIOCHEM DIS LAB,VANCOUVER,BC,CANADA
[3] UNIV BRITISH COLUMBIA,BRITISH COLUMBIA CHILDRENS HOSP,DEPT MED GENET,VANCOUVER,BC,CANADA
来源：
HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 05期
关键词：
D O I：
10.1093/hmg/3.5.821
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
引用
下载
收藏
页码：821 / 823
页数：3
相关论文
共 50 条
  • [31] Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population
    Erik A Sistermans
    René FM de Coo
    Hetty M van Beerendonk
    Bwee Tien Poll-The
    Wim J Kleijer
    Bernard A van Oost
    European Journal of Human Genetics, 2000, 8 : 557 - 560
  • [32] Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population
    Sistermans, EA
    de Coo, RFM
    van Beerendonk, HM
    Poll-The, BT
    Kleijer, WJ
    van Oost, BA
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (07) : 557 - 560
  • [33] HETEROZYGOSITY FOR AN EXON-12 SPLICING MUTATION AND A W234G MISSENSE MUTATION IN AN AMERICAN CHILD WITH CHRONIC TYROSINEMIA TYPE-1
    HAHN, SH
    KRASNEWICH, D
    BRANTLY, M
    KVITTINGEN, EA
    GAHL, WA
    HUMAN MUTATION, 1995, 6 (01) : 66 - 73
  • [34] ENZYME THERAPY IN TYPE-1 GAUCHER DISEASE - COMPARATIVE EFFICACY OF MANNOSE-TERMINATED GLUCOCEREBROSIDASE FROM NATURAL AND RECOMBINANT SOURCES
    GRABOWSKI, GA
    BARTON, NW
    PASTORES, G
    DAMBROSIA, JM
    BANERJEE, TK
    MCKEE, MA
    PARKER, C
    SCHIFFMANN, R
    HILL, SC
    BRADY, RO
    ANNALS OF INTERNAL MEDICINE, 1995, 122 (01) : 33 - 39
  • [35] Mucolipidosis type IV:: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population
    Bargal, R
    Avidan, N
    Olender, T
    Ben Asher, E
    Zeigler, M
    Raas-Rothschild, A
    Frumkin, A
    Ben-Yoseph, O
    Friedlender, Y
    Lancet, D
    Bach, G
    HUMAN MUTATION, 2001, 17 (05) : 397 - 402
  • [36] ENZYME THERAPY IN GAUCHER DISEASE TYPE-1 - COMPARATIVE EFFICACY OF MANNOSE-TERMINATED GLUCOCEREBROSIDASE FROM NATURAL AND RECOMBINANT SOURCES
    GRABOWSKI, GA
    BARTON, NW
    PASTORES, G
    DAMBROSIA, JM
    BANERJEE, TK
    MCKEE, MA
    PARKER, C
    SCHIFFMANN, R
    HILL, SC
    BRADY, RO
    BLOOD, 1994, 84 (10) : A226 - A226
  • [37] DIFFERENT RECOMBINATIONAL EVENTS BETWEEN THE GLUCOCEREBROSIDASE GENE AND PSEUDOGENE IN PATIENTS WITH TYPE-1, TYPE-2 AND TYPE-3 GAUCHER-DISEASE
    TAYEBI, N
    HERMAN, J
    STUBBLEFIELD, BK
    DAMSCHRODERWILLIAMS, P
    WINFIELD, S
    GINNS, EI
    SIDRANSKY, E
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1329 - 1329
  • [38] Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus
    Reissner, K
    Tayebi, N
    Stubblefield, BK
    Koprivica, V
    Blitzer, M
    Holleran, W
    Cowan, T
    Almashanu, S
    Maddalena, A
    Karson, EM
    Sidransky, E
    MOLECULAR GENETICS AND METABOLISM, 1998, 63 (04) : 281 - 288
  • [39] GENETIC-HETEROGENEITY IN TYPE-1 GAUCHER DISEASE - MULTIPLE GENOTYPES IN ASHKENAZIC AND NON-ASHKENAZIC INDIVIDUALS
    TSUJI, S
    MARTIN, BM
    BARRANGER, JA
    STUBBLEFIELD, BK
    LAMARCA, ME
    GINNS, EI
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (07) : 2349 - 2352
  • [40] JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease
    Webb, Bryn D.
    Weinreb, Neal J.
    Botti, Anthony C.
    Kirmse, Brian M.
    Balwani, Manisha
    BLOOD CELLS MOLECULES AND DISEASES, 2011, 46 (01) : 103 - 104
12345