Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1
| Autor: | John A. Sayer, Caruso, S. Degortes, Monica Ceol, Giancarlo Barbano, Licia Peruzzi, Enrica Tosetto, Anita Ammenti, Federica Mezzabotta, Gianluca Vergine, Mario Giordano, Laura Soldati, Giacomo Colussi, N. Glorioso, Giuseppe Vezzoli, Franca Anglani, Angela D'Angelo |
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| Přispěvatelé: | Tosetto, E, Ceol, M, Mezzabotta, F, Ammenti, A, Peruzzi, L, Caruso, Mr, Barbano, G, Vezzoli, G, Colussi, G, Vergine, G, Giordano, M, Glorioso, N, Degortes, S, Soldati, L, Sayer, J, D'Angelo, A, Anglani, F |
| Rok vydání: | 2009 |
| Předmět: |
Genetics
Adult Five prime untranslated region Adolescent Reverse Transcriptase Polymerase Chain Reaction Infant Dent Disease Genetic Diseases X-Linked Sequence Analysis DNA Biology Phenotype CLCN5 gene Chloride Channels Child Preschool Mutation (genetic algorithm) Mutation Humans Kidney Diseases Allele 5' Untranslated Regions Child Genetics (clinical) Polymorphism Single-Stranded Conformational |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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