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The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype
Renal-coloboma syndrome, also known as papillorenal syndrome, is an autosomal dominant human disorder in which optic disc coloboma is associated with kidney abnormalities. Mutations in the paired domain transcription factor PAX2 have been found to be the underlying cause of this disease. Disease sev...
| Autores principales: | , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005898/ https://www.ncbi.nlm.nih.gov/pubmed/20943750 http://dx.doi.org/10.1093/hmg/ddq457 |