G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: Comment on 'A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton' by Vettore et al
| Autor: | Kazuko Kudo, Toshihiro Tomii, Shinji Kunishima, Hidehiko Saito |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Genetics
chemistry.chemical_classification Splice site mutation Myosin Heavy Chains Nucleotides Myh9 gene Molecular Motor Proteins Nonmuscle Myosin Type IIA Mutation Missense Exons General Medicine Biology Exon chemistry RNA splicing Humans Missense mutation Female Platelet Nucleotide Transversion Genetics (clinical) |
| Zdroj: | European Journal of Medical Genetics. 55:763-765 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2012.09.001 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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