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Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)
Uromodulin (UMOD) mutations were described in patients with medullary cystic kidney disease (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and glomerulocystic kidney disease (GCKD). UMOD transcription is activated by the transcription factor HNF1B. Mutations in HNF1B cause a phenotype...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3155267/ https://ncbi.nlm.nih.gov/pubmed/18846391 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-008-1016-6 |
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