A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family
| Autor: | Laura Doria-Lamba, Matteo Pardini, Mauro Ceroni, Enrico Marchioni, L. Reni, Luca Roccatagliata, M. Bandettini di Poggio, M. Monti Bragadin, Angelo Schenone, Stella Gagliardi, Cristina Cereda |
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| Rok vydání: | 2012 |
| Předmět: |
Genetics
Male Heterozygote business.industry Hearing Loss Sensorineural Bulbar Palsy Progressive Molecular Sequence Data Membrane Transport Proteins medicine.disease Compound heterozygosity Clinical neurology Pedigree Neurology Brown–Vialetto–Van Laere syndrome Italy Mutation (genetic algorithm) Mutation medicine Humans Female Genetic Predisposition to Disease Neurology (clinical) Amino Acid Sequence business Gene |
| Zdroj: | European journal of neurology. 20(7) |
| ISSN: | 1468-1331 |
| Databáze: | OpenAIRE |
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