Novel point mutation in Exon 12 of the glucose-6-phosphate dehydrogenase gene
In Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a "moderate rate of G6PD deficiency" (12.6% of the normal activity) according to...
| Autor principal: | |
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| Outros Autores: | , , , , |
| Formato: | article |
| Idioma: | eng |
| Publicado em: |
2015
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| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10451/21027 |
| País: | Portugal |
| Oai: | oai:repositorio.ul.pt:10451/21027 |