A G+1--A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient
| Autor: | Emma Ciafaloni, Allen D. Rose, Patrizia Ciscato, Nereo Bresolin, Anna Carla Turconi, Francesco Fortunato, M. Robotti, H.A.Rohan de Silva, Catia Rigoletto, Guglielmo Scarlato, Alessandro Prelle, Alessandra Bardoni, Giacomo P. Comi, Maurizio Moggio |
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| Rok vydání: | 1995 |
| Předmět: |
Gene isoform
Male Guanine Duchenne muscular dystrophy RNA Splicing Molecular Sequence Data Biology medicine.disease_cause Muscular Dystrophies Dystrophin Sural Nerve Genetics medicine Humans Point Mutation RNA Messenger Transversion Child Molecular Biology Gene Genetics (clinical) Mutation Base Sequence Adenine Intron General Medicine DNA medicine.disease Introns RNA splicing biology.protein Cancer research |
| Zdroj: | Human molecular genetics. 4(11) |
| ISSN: | 0964-6906 |
| Databáze: | OpenAIRE |
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