Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population

Saved in:
Bibliographic Details
Published in:Clinical genetics 2012-05, Vol.81 (5), p.495-497
Main Authors: García-Rodríguez, B, Alfonso, P, Mallén, M, Pocoví, M, Giraldo, P
Format: Article
Language:English
Subjects:
Adult
Aged
Alleles
Biological and medical sciences
Errors of metabolism
European Continental Ancestry Group - genetics
Female
Fundamental and applied biological sciences. Psychology
Gaucher Disease - epidemiology
Gaucher Disease - genetics
Gene Frequency
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
Genotype
Glucosylceramidase - genetics
Humans
Lipids (lysosomal enzyme disorders, storage diseases)
Male
Medical genetics
Medical sciences
Metabolic diseases
Middle Aged
Molecular and cellular biology
Mutation
Spain - epidemiology
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2011.01757.x