Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

<p>Abstract</p> <p>Background</p> <p>Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics.</p> <p>Methods</p> <p>We evaluated the distribution...

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Bibliographic Details
Main Authors: Giraldo Pilar, Alfonso Pilar, Irún Pilar, Gort Laura, Chabás Amparo, Vilageliu Lluïsa, Grinberg Daniel, Sá Miranda Clara M, Pocovi Miguel
Format: Article
Language:English
Published: BMC 2012-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Gaucher disease
Glucocerebrosidase
Phenotype
Genotyping
Iberian Peninsula
Online Access:http://www.ojrd.com/content/7/1/17

Internet

http://www.ojrd.com/content/7/1/17

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