Is the IVS2+4T>C variant of the HFE gene a splicing mutation or a polymorphism? A study in the Spanish population
| Autor: | Maria Guzman Fulgencio, Esther Mancebo Sierra, Manuel J del Rey Cerros, Pablo Morales Perez, Arantza Pacho de Lucas, Jorge Muñoz Robles |
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| Rok vydání: | 2005 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Linkage disequilibrium Biology digestive system Linkage Disequilibrium Gene Frequency Polymorphism (computer science) medicine Humans Hemochromatosis Protein Allele frequency Genetics (clinical) Hemochromatosis Genetics Polymorphism Genetic Histocompatibility Antigens Class I digestive oral and skin physiology Alternative splicing Membrane Proteins nutritional and metabolic diseases medicine.disease Spanish population Alternative Splicing Spain Mutation Mutation (genetic algorithm) RNA splicing |
| Zdroj: | Genetics in Medicine. 7:212-213 |
| ISSN: | 1098-3600 |
| Popis: | Is the IVS2+4T>C variant of the HFE gene a splicing mutation or a polymorphism? A study in the Spanish population |
| Databáze: | OpenAIRE |
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