The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation-Reference-Cited by-同舟云学术

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The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation

Published:2003-09 Issue:2 Volume:31 Page:187-189
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Brautbar Ariel,Elstein Deborah,Abrahamov Aya,Zeigler Marsha,Chicco Gaya,Beutler Ernest,Scott C.Ronald,Zimran Ari

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling;Molecular Genetics and Metabolism Reports;2020-03

2. Results From a 12-Month Open-Label Phase 1/2 Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease;Journal of Inborn Errors of Metabolism and Screening;2018-01

3. Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening;Genetics in Medicine;2017-06

4. Therapies for Lysosomal Storage Diseases;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

5. Nonneoplastic Histiocytic Proliferations of Lymph Nodes and Bone Marrow;Hematopathology;2011

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