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
  • [41] CDNA SEQUENCE, INTERSPECIES COMPARISON, AND GENE-MAPPING ANALYSIS OF ARGININOSUCCINATE LYASE
    TODD, S
    MCGILL, JR
    MCCOMBS, JL
    MOORE, CM
    WEIDER, I
    NAYLOR, SL
    GENOMICS, 1989, 4 (01) : 53 - 59
  • [42] Homologous and non-homologous recombinations at the glucocerebrosidase locus: Implications for Gaucher disease.
    Tayebi, N
    Stubblefield, B
    Stone, D
    Callahan, M
    Madike, V
    Sidransky, E
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A493 - A493
  • [43] Genetic fine localization of the β-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease
    B. Cormand
    Magda Montfort
    Amparo Chabás
    Lluïsa Vilageliu
    D. Grinberg
    Human Genetics, 1997, 100 : 75 - 79
  • [44] Transgenic mice expressing human glucocerebrosidase variants: Utility for the study of Gaucher disease
    Sanders, Angela
    Hemmelgarn, Harmony
    Melrose, Heather L.
    Hein, Leanne
    Fuller, Maria
    Clarke, Lorne A.
    BLOOD CELLS MOLECULES AND DISEASES, 2013, 51 (02) : 109 - 115
  • [45] ENZYME REPLACEMENT IN GAUCHER DISEASE WITH MACROPHAGE-TARGETED HUMAN PLACENTAL GLUCOCEREBROSIDASE
    BRADY, RO
    FURBISH, FS
    BARTON, NW
    FASEB JOURNAL, 1991, 5 (04): : A755 - A755
  • [46] Different sites of recombination between the glucocerebrosidase gene and pseudogene in patients with Gaucher disease.
    Tayebi, N
    Stubblefield, BK
    DamschroderWilliams, P
    Cushner, S
    Lau, E
    Sidransky, E
    PEDIATRIC RESEARCH, 1996, 39 (04) : 875 - 875
  • [47] β-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-α-lipoproteinaemia
    Pocovi, M
    Cenarro, A
    Civeira, F
    Torralba, MA
    Perez-Calvo, JI
    Mozas, P
    Giraldo, P
    Giralt, M
    Myers, RH
    Cupples, LA
    Ordovas, JM
    LANCET, 1998, 351 (9120): : 1919 - 1923
  • [48] RECTL - A COMPLEX ALLELE OF THE GLUCOCEREBROSIDASE GENE ASSOCIATED WITH A MILD CLINICAL COURSE OF GAUCHER DISEASE
    ZIMRAN, A
    HOROWITZ, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 50 (01): : 74 - 78
  • [49] Identification of novel mutations in glucocerebrosidase (GBA) gene in Indian patients with gaucher disease (GD)
    Chitra Ankleshwaria
    Jayesh Sheth
    Mehul Mistri
    Ashish Bavdekar
    Sheela Nampoothiri
    Sarita Gupta
    Frenny Sheth
    Molecular Cytogenetics, 7 (Suppl 1)
  • [50] Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene
    Lepe-Balsalobre, Esperanza
    Santotoribio, Jose D.
    Nunez-Vazquez, Ramiro
    Garcia-Morillo, Salvador
    Jimenez-Arriscado, Pilar
    Hernandez-Arevalo, Paula
    Delarosa-Rodriguez, Rocio
    Guerrero, Juan M.
    Macher, Hada C.
    CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2020, 58 (12) : 2017 - 2024
12345