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Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >
DGH - Artigos em revistas internacionais >
Please use this identifier to cite or link to this item:
http://hdl.handle.net/10400.18/719
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| Title: | Distinct Haplotype in Non-Ashkenazi Gaucher Patients with N370S Mutation |
| Authors: | Amaral, Olga
Marcao, Ana
Pinto, Eugénia
Zimran, Ari
Sá Miranda, M.C. |
| Keywords: | Doenças Genéticas
Gaucher
Genetic Disease
Haplótipo
Polimorfismo
Glucocerebrosidase |
| Issue Date: | Dec-1997 |
| Publisher: | Elsevier |
| Citation: | Blood Cells Mol Dis. 1997 Dec;23(3):415-6 |
| Abstract: | 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 territory. This finding indicates that, in the Portuguese, mutation N370S has existed in the context of two slightly different haplotypes and thus must be relatively ancient. |
| Peer Reviewed: | yes |
| URI: | http://hdl.handle.net/10400.18/719 |
| ISSN: | 1079-9796 |
| Publisher version: | http://www.sciencedirect.com/science/article/pii/S1079979697901595 |
| Appears in Collections: | DGH - Artigos em revistas internacionais
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