Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity-Reference-Cited by-同舟云学术

Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity

Published:2013-08-13 Issue:10 Volume:34 Page:1396-1403
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Alfonso Pilar,Navascués Joaquín,Navarro Silvia¹,Medina Pilar¹,Bolado-Carrancio Alfonso²,Andreu Vanesa,Irún Pilar,Rodríguez-Rey José Carlos²,Pocoví Miguel,España Francisco¹,Giraldo Pilar

Affiliation:

1. Centro de Investigación; Hospital Universitario La Fe; Valencia; Spain

2. Departamento de Biología Molecular; Universidad de Cantabria e Instituto de Formación e Investigación Marqués de Valdecilla (IFIMAV); Santander; Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22381/fullpdf

Reference44 articles.

1. Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity;Aerts;Diabetes,2007

2. Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease;Alfonso;Clin Chim Acta,2011

3. Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype;Beutler;Isr Med Med Assoc,2002

4. Hematologically important mutations: Gaucher disease;Beutler;Blood Cells Mol Dis,2005

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