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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| Outros Autores: | , , , |
| Formato: | article |
| Idioma: | eng |
| Publicado em: |
2012
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| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10400.18/719 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/719 |