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NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development
Nephronophthisis (NPHP) is an autosomal recessive kidney disease that is often associated with vision and/or brain defects. To date, 11 genes are known to cause NPHP. The gene products, while structurally unrelated, all localize to cilia or centrosomes. Although mouse models of NPHP are available fo...
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| Formato: | Artigo |
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| Idioma: | en |
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Oxford University Press
2011
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3016909/ https://ncbi.nlm.nih.gov/pubmed/21078623 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq494 |
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