Mutation screening for tyrosinaemia type I
| Autor: | A. Green, S. K. Heath, R. G. F. Gray, K. M. Au, E. Walker, Patrick J. McKiernan |
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| Rok vydání: | 2002 |
| Předmět: |
Genetics
Hydrolases Tyrosinemias Medical screening Chromosome Mapping DNA Exons Biology medicine.disease Human genetics Tyrosinemia Consanguinity Tyrosinaemia type I Mutation Mutation (genetic algorithm) Mutation screening medicine Humans Genetic Testing Gene Polymorphism Single-Stranded Conformational Genetics (clinical) |
| Zdroj: | Journal of Inherited Metabolic Disease. 25:523-524 |
| ISSN: | 0141-8955 |
| DOI: | 10.1023/a:1021275923668 |
| Popis: | This study reports the development of a mutation screening strategy for tyrosinaemia type I, and the identification of six novel mutations in the FAA gene. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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