1342C MUTATION IN GAUCHERS-DISEASE

被引：20

作者：

BEUTLER, E

KATTAMIS, C

SIPE, J

LIPSON, M

机构：

[1] SCRIPPS CLIN & RES FDN, DIV NEUROL, LA JOLLA, CA 92037 USA

[2] UNIV ATHENS, DEPT PAEDIAT 1, ATHENS, GREECE

[3] KAISER PERMANENTE MED CARE PROGRAM, SACRAMENTO, CA USA

来源：

LANCET | 1995年 / 346卷 / 8990期

关键词：

D O I：

10.1016/S0140-6736(95)91975-9

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1637 / 1637

页数：1

共 5 条

[1]

ABRAHAMOV, 1995, LANCET, V346, P1000

[2] UNUSUAL EXPRESSION OF GAUCHERS-DISEASE - CARDIOVASCULAR CALCIFICATIONS IN 3 SIBS HOMOZYGOUS FOR THE D409H MUTATION [J].

CHABAS, A ;

CORMAND, B ;

GRINBERG, D ;

BURGUERA, JM ;

BALCELLS, S ;

MERINO, JL ;

MATE, I ;

SOBRINO, JA ;

GONZALEZDUARTE, R ;

VILAGELIU, L .

JOURNAL OF MEDICAL GENETICS, 1995, 32 (09) :740-742

[3]

GLENN D, 1994, HUM GENET, V93, P635

[4] GENOTYPE/PHENOTYPE CORRELATIONS IN GAUCHERS-DISEASE [J].

MISTRY, PK .

LANCET, 1995, 346 (8981) :982-983

[5] HETEROGENEITY IN TYPE-I GAUCHER DISEASE DEMONSTRATED BY RESTRICTION MAPPING OF THE GENE [J].

SORGE, J ;

GELBART, T ;

WEST, C ;

WESTWOOD, B ;

BEUTLER, E .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (16) :5442-5445

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