GENE-MAPPING AND LEADER POLYPEPTIDE SEQUENCE OF HUMAN GLUCOCEREBROSIDASE - IMPLICATIONS FOR GAUCHER DISEASE

被引：98
|
作者：
GINNS, EI [1 ]
CHOUDARY, PV [1 ]
TSUJI, S [1 ]
MARTIN, B [1 ]
STUBBLEFIELD, B [1 ]
SAWYER, J [1 ]
HOZIER, J [1 ]
BARRANGER, JA [1 ]
机构：
[1] FLORIDA INST TECHNOL,MED GENET LAB,MELBOURNE,FL 32901
来源：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1985年 / 82卷 / 20期
关键词：
D O I：
10.1073/pnas.82.20.7101
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
引用
收藏
页码：7101 / 7105
页数：5
相关论文
共 50 条
  • [31] EPIGENE CONVERSION - A PROPOSAL WITH IMPLICATIONS FOR GENE-MAPPING IN HUMANS
    SABL, JF
    LAIRD, CD
    AMERICAN JOURNAL OF HUMAN GENETICS, 1992, 50 (06) : 1171 - 1177
  • [32] CYTOGENETICS - FROM MICROSCOPY TO HUMAN GENE-MAPPING
    BERNHEIM, A
    BULLETIN DU CANCER, 1991, 78 (01) : 41 - 47
  • [33] Recombinant glucocerebrosidase uptake by Gaucher disease human osteoblast culture model
    Lamghari, M
    Barrias, CC
    Miranda, CS
    Barbosa, MA
    BLOOD CELLS MOLECULES AND DISEASES, 2005, 35 (03) : 348 - 354
  • [34] HUMAN GENE-MAPPING 10.5 - OXFORD CONFERENCE (1990) - UPDATE TO THE 10TH INTERNATIONAL WORKSHOP ON HUMAN GENE-MAPPING - INTRODUCTION
    BODMER, WF
    CYTOGENETICS AND CELL GENETICS, 1990, 55 (1-4): : 1 - 1
  • [35] Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene
    Hagege, Ermias
    Grey, Richard J.
    Lopez, Grisel
    Lal, Tamanna Roshan
    Sidransky, Ellen
    Tayebi, Nahid
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (12) : 3211 - 3215
  • [36] GENE-MAPPING STUDIES IN VONHIPPEL-LINDAU DISEASE
    MAHER, ER
    BENTLEY, E
    YATES, JRW
    BARTON, D
    JENNINGS, A
    FELLOWS, I
    PONDER, MA
    PONDER, BAJ
    BENJAMIN, C
    HARRIS, R
    BUNDEY, S
    FERGUSONSMITH, MA
    JOURNAL OF MEDICAL GENETICS, 1990, 27 (10) : 653 - 653
  • [37] Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: Phenotypic presentation and implications for mutation detection assays
    Mao, R
    O'Brien, JF
    Rao, S
    Schmitt, E
    Roa, B
    Feldman, GL
    Spence, WC
    Snow, K
    MOLECULAR GENETICS AND METABOLISM, 2001, 72 (03) : 248 - 253
  • [38] GENE-MAPPING IN CATTLE - EXTENSIVE HOMOLOGY WITH THE HUMAN MAP
    WOMACK, JE
    MOLL, YD
    CYTOGENETICS AND CELL GENETICS, 1985, 40 (1-4): : 781 - 781
  • [39] GAUCHER DISEASE IN THE NEONATE - A DISTINCT GAUCHER PHENOTYPE IS ANALOGOUS TO A MOUSE MODEL CREATED BY TARGETED DISRUPTION OF THE GLUCOCEREBROSIDASE GENE
    SIDRANSKY, E
    SHERER, DM
    GINNS, EL
    PEDIATRIC RESEARCH, 1992, 32 (04) : 494 - 498
  • [40] The identification of three additional genes contiguous to the glucocerebrosidase locus: implications for Gaucher disease.
    Winfield, SL
    Tayebi, N
    Martin, BM
    Ginns, EI
    Sidransky, E
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A393 - A393
12345