Hematologically important mutations: Gaucher disease

被引：121

作者：

Beutler, E

Gelbart, T

Scott, CR

机构：

[1] Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA 92037 USA

[2] Univ Washington, Dept Pediat, Seattle, WA 98195 USA

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2005年 / 35卷 / 03期

关键词：

D O I：

10.1016/j.bcmd.2005.07.005

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：355 / 364

页数：10

共 104 条

[1] Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease:: Identification of 11 novel mutations [J].

Alfonso, P ;

Cenarro, A ;

Pérez-Calvo, JI ;

Giralt, M ;

Giraldo, P ;

Pocoví, M .

BLOOD CELLS MOLECULES AND DISEASES, 2001, 27 (05) :882-891

[2]

Amaral O, 1996, HUM MUTAT, V8, P280, DOI 10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.3.CO

[3]

2-6

[4]

Antonarakis SE, 1998, HUM MUTAT, V11, P1

[5] ERRONEOUS ASSIGNMENT OF GAUCHER DISEASE GENOTYPE AS A CONSEQUENCE OF A COMPLETE GENE DELETION [J].

BEUTLER, E ;

GELBART, T .

HUMAN MUTATION, 1994, 4 (03) :212-216

[6]

BEUTLER E, 1992, BLOOD, V79, P1662

[7] GLUCOCEREBROSIDASE MUTATIONS IN GAUCHER DISEASE [J].

BEUTLER, E ;

DEMINA, A ;

GELBART, T .

MOLECULAR MEDICINE, 1994, 1 (01) :82-92

[8]

Beutler E, 1996, P ASSOC AM PHYSICIAN, V108, P179

[9] 5 NEW GAUCHER-DISEASE MUTATIONS [J].

BEUTLER, E ;

GELBART, T ;

DEMINA, A ;

ZIMRAN, A ;

LECOUTRE, P .

BLOOD CELLS MOLECULES AND DISEASES, 1995, 21 (01) :20-24

[10] Three Gaucher-disease-producing mutations in a patient with Gaucher disease: Mechanism and diagnostic implications [J].

Beutler, E ;

Liebman, H ;

Gelbart, T ;

Stefanski, E .

ACTA HAEMATOLOGICA, 2000, 104 (2-3) :103-105

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