The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America
In this work, we review the clinical and genetic data in 14 Latin American propionic acidemia (PA) and 15 methylmalonic aciduria (MMAuria) patients. In the PA patients, we have identified four different changes in the PCCA gene, including one novel one (c.414+5G>A) affecting the splicing process....
Guardado en:
| Autores principales: | Pérez, Belén, Angaroni, Celia, Sánchez Alcudia, Rocio, Merinero, Begoña, Pérez Cerda, Celia, Specola, N., Rodríguez Pombo, P., Wajner, Moacir, De Kremer, Raquel, Cornejo, Verónica, Desviat, Lourdes R., Ugarte, Magdalena |
|---|---|
| Formato: | Artículo PeerReviewed |
| Lenguaje: | Español |
| Publicado: |
2010
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| Materias: | |
| Acceso en línea: | http://pa.bibdigital.ucc.edu.ar/5012/1/A_P%C3%A9rez.pdf |
| Aporte de: |
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