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https://hdl.handle.net/10316/13584| Title: | Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis | Authors: | Manco, Licínio Gonçalves, Paula Macedo-Ribeiro, Sandra Seabra, Carlos Melo, Paula Ribeiro, Maria Letícia |
Keywords: | G6PD deficiency; Portugal; G6PD class I mutations; Dimer interface; G6PD structure; Amino acid conservation | Issue Date: | 2005 | Publisher: | Ferrata Storti Foundation | Citation: | Haematologica. 90:8 (2005) 1135-1136 | Serial title, monograph or event: | Haematologica | Issue: | 8 | Abstract: | We describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205CÆÆA in exon 10 predicts the amino acid change 402ThrÆÆAsn in the bb-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366GÆÆA in exon 12 predicts the amino acid substitution 456AspÆÆHis in the aa-helix N, at the protein surface (G6PD Figueira da Foz). | URI: | https://hdl.handle.net/10316/13584 | ISSN: | 0390-6078 | Rights: | openAccess |
| Appears in Collections: | I&D CIAS - Artigos em Revistas Internacionais FCTUC Ciências da Vida - Artigos em Revistas Internacionais |
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| File | Description | Size | Format | |
|---|---|---|---|---|
| Two new glucose-6-phosphate dehydrogenase mutations.pdf | 191.64 kB | Adobe PDF | View/Open |
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