Distinct Haplotype in Non-Ashkenazi Gaucher Patients with N370S Mutation

A new polymorphism, in intron 7 of glucocerebrosidase gene, has been identified in Gaucher Disease patients. It seems to appear only in Pv1.1- alleles bearing the N370S mutation. This new sub-haplotype was only identified in Portuguese patients, of origins spanning all of the Portuguese continental...

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Bibliographic Details
Main Author: Amaral, Olga (author)
Other Authors: Marcao, Ana (author), Pinto, Eugénia (author), Zimran, Ari (author), Sá Miranda, M.C. (author)
Format: article
Language:eng
Published: 2012
Subjects:
Doenças Genéticas
Gaucher
Genetic Disease
Haplótipo
Polimorfismo
Glucocerebrosidase
Online Access:http://hdl.handle.net/10400.18/719
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/719

Internet

http://hdl.handle.net/10400.18/719

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