Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin

被引:10
作者
Amaral, O [1 ]
Lacerda, L [1 ]
Marcao, A [1 ]
Pinto, E [1 ]
Tamagnini, G [1 ]
Miranda, MCS [1 ]
机构
[1] Inst Genet Med Jacinto de Magalhaes, Dept Enzymol, P-4050 Oporto, Portugal
关键词
D O I
10.1034/j.1399-0004.1999.560117.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:100 / 102
页数:3
相关论文
共 13 条
[1]   COMPARATIVE-STUDY ON GLUCOCEREBROSIDASE IN SPLEENS FROM PATIENTS WITH GAUCHER DISEASE [J].
AERTS, JMFG ;
DONKERKOOPMAN, WE ;
BRUL, S ;
VANWEELY, S ;
MIRANDA, MCS ;
BARRANGER, JA ;
TAGER, JM ;
SCHRAM, AW .
BIOCHEMICAL JOURNAL, 1990, 269 (01) :93-100
[2]   TYPE-1 GAUCHER DISEASE - MOLECULAR, BIOCHEMICAL, AND CLINICAL CHARACTERIZATION OF PATIENTS FROM NORTHERN PORTUGAL [J].
AMARAL, O ;
LACERDA, L ;
SANTOS, R ;
PINTO, RA ;
AERTS, H ;
MIRANDA, MCS .
BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY, 1993, 49 (01) :97-107
[3]  
Amaral O, 1998, EUR J HUM GENET, V6, P50
[4]  
Amaral O, 1996, HUM MUTAT, V8, P280, DOI 10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.3.CO
[5]  
2-6
[6]  
BEUTLER E, 1994, METABOLIC BASIS INHE, P2641
[7]   Exhaustive screening of the acid β-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers:: Mutation profile and genotype/phenotype correlations in Gaucher disease [J].
Germain, DP ;
Puech, JP ;
Caillaud, C ;
Kahn, A ;
Poenaru, L .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (02) :415-427
[8]   MARKED ELEVATION OF PLASMA CHITOTRIOSIDASE ACTIVITY - A NOVEL HALLMARK OF GAUCHER DISEASE [J].
HOLLAK, CEM ;
VANWEELY, S ;
VANOERS, MHJ ;
AERTS, JMFG .
JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (03) :1288-1292
[9]   IDENTIFICATION OF GAUCHER DISEASE CARRIERS - GLUCOCEREBROSIDASE ANTIGEN AND DNA ANALYSIS [J].
LACERDA, L ;
AMARAL, O ;
PINTO, R ;
AERTS, J ;
MIRANDA, MCS .
BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY, 1993, 50 (02) :190-196
[10]   USE OF DENATURING GRADIENT GEL-ELECTROPHORESIS TO IDENTIFY MUTANT SEQUENCES IN THE BETA-GLUCOCEREBROSIDASE GENE [J].
LAUBSCHER, KH ;
GLEW, RH ;
LEE, RE ;
OKINAKA, RT .
HUMAN MUTATION, 1994, 3 (04) :411-415