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Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry

  • Published:2015-06-22 Issue: Volume:90 Page:S12-S18
  • ISSN:0361-8609
  • Container-title:American Journal of Hematology
  • language:en
  • Short-container-title:Am. J. Hematol.

Author:

Grabowski Gregory A.1,Zimran Ari2,Ida Hiroyuki3

Affiliation:

1. Division of Human Genetics, Department of Pediatrics; Children's Hospital Medical Center; Cincinnati Ohio, USA

2. Department of Internal Medicine, Shaare Zedek Medical Center and Hebrew University-Hadassah Medical School; Jerusalem Israel

3. Department of Pediatrics; Jikei University School of Medicine; Tokyo Japan

Publisher

Wiley

Subject

Hematology

Reference53 articles.

1. Phenotype/genotype correlations in Gaucher disease type I: Clinical and therapeutic implications;Sibille;Am J Hum Genet,1993

2. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews;Zimran;Am J Hum Genet,1991

3. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients;Zimran;Medicine,1992

4. Prediction of severity of Gaucher's disease by identification of mutations at DNA level;Zimran;Lancet,1989

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