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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...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3005898/ https://ncbi.nlm.nih.gov/pubmed/20943750 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq457 |
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