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
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 28 条
[1]   ASSIGNMENT OF THE GENE CODING FOR HUMAN BETA-GLUCOCEREBROSIDASE TO THE REGION Q21-Q31 OF CHROMOSOME-1 USING MONOCLONAL-ANTIBODIES [J].
BARNEVELD, RA ;
KEIJZER, W ;
TEGELAERS, FPW ;
GINNS, EI ;
GEURTSVANKESSEL, A ;
BRADY, RO ;
BARRANGER, JA ;
TAGER, JM ;
GALJAARD, H ;
WESTERVELD, A ;
REUSER, AJJ .
HUMAN GENETICS, 1983, 64 (03) :227-231
[2]  
BRADFORD MM, 1976, ANAL BIOCHEM, V72, P248, DOI 10.1016/0003-2697(76)90527-3
[3]  
Brady R. O., 1983, METABOLIC BASIS INHE, P842
[4]  
CHOUDARY PV, 1985, DNA-J MOLEC CELL BIO, V4, P74
[5]  
CHOUDARY PV, 1985, FED P FED AM SOC EXP, V44, P7029
[6]   POLYMORPHISM OF HUMAN CONSTITUTIVE HETEROCHROMATIN [J].
CRAIGHOLMES, AP ;
SHAW, MW .
SCIENCE, 1971, 174 (4010) :702-+
[7]   REGIONAL ASSIGNMENT OF THE STRUCTURAL GENE FOR HUMAN ACID BETA-GLUCOSIDASE TO Q42-]QTER ON CHROMOSOME-1 [J].
DEVINE, EA ;
SMITH, M ;
ARREDONDOVEGA, FX ;
SHAFITZAGARDO, B ;
DESNICK, RJ .
CYTOGENETICS AND CELL GENETICS, 1982, 33 (04) :340-344
[8]  
ERICKSON A, 1985, J BIOL CHEM
[9]   MUTATIONS OF GLUCOCEREBROSIDASE - DISCRIMINATION OF NEUROLOGIC AND NON-NEUROLOGIC PHENOTYPES OF GAUCHER DISEASE [J].
GINNS, EI ;
BRADY, RO ;
PIRRUCCELLO, S ;
MOORE, C ;
SORRELL, S ;
FURBISH, FS ;
MURRAY, GJ ;
TAGER, J ;
BARRANGER, JA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (18) :5607-5610
[10]   DETERMINATION OF GAUCHERS-DISEASE PHENOTYPES WITH MONOCLONAL-ANTIBODY [J].
GINNS, EI ;
TEGELAERS, FPW ;
BARNEVELD, R ;
GALJAARD, H ;
REUSER, AJJ ;
BRADY, RO ;
TAGER, JM ;
BARRANGER, JA .
CLINICA CHIMICA ACTA, 1983, 131 (03) :283-287