Analysis of three mutations in Turkish children with Gaucher disease-Reference-Cited by-同舟云学术

Analysis of three mutations in Turkish children with Gaucher disease

Published:1999-12 Issue:8 Volume:22 Page:947-948
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Gürakan F.¹,Terzioğlu M.²,Koçak N.¹,Yüce A.¹,Özen H.¹,Ciliv G.³,Emre S.²

Affiliation:

1. ; Department of Pediatric Gastroenterology; Hacettepe University Medical Faculty; Ankara Turkey

2. ; Department of Medical Biology; Hacettepe University Medical Faculty; Ankara Turkey

3. ; Department of Biochemistry; Hacettepe University Medical Faculty; Ankara Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005668230365/fullpdf

Reference3 articles.

1. Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies;Michelakakis;J Inher Metab Dis,1995

2. Horowitz M Goldman B Deleg L 1997 Prevalance of glucocerebrosidase mutations in the Ashkenazi Jewish population Second EW GGD Workshop May 1-3, Maastricht 34

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

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