Characterization of a rare Unverricht–Lundborg disease mutation
Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G>A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this wor...
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| Autores principales: | , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Elsevier
2015-09-01
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| Colección: | Molecular Genetics and Metabolism Reports |
| Materias: | |
| Acceso en línea: | http://www.sciencedirect.com/science/article/pii/S2214426915300239 |
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