Aberrant splicing due to a silent nucleotide change inCCM2gene in a family with cerebral cavernous malformation
| Autor: | Maria Teresa Bassi, Nereo Bresolin, Silvia Lanfranconi, Alessandra Tonelli, Anna Bersano, Stefania Corti |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Hemangioma Cavernous Central Nervous System RNA Splicing DNA Mutational Analysis Biology medicine.disease_cause Genetics medicine Humans Family Nucleotide Aberrant splicing Gene Genetics (clinical) chemistry.chemical_classification Mutation Middle Aged Pedigree Italy chemistry RNA splicing Female Carrier Proteins |
| Zdroj: | Clinical Genetics. 75:494-497 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.2009.01154.x |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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