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Localization of PDZD7 to the Stereocilia Ankle-Link Associates this Scaffolding Protein with the Usher Syndrome Protein Network
Usher syndrome is the leading cause of genetic deaf–blindness. Monoallelic mutations in PDZD7 increase the severity of Usher type II syndrome caused by mutations in USH2A and GPR98, which respectively encode usherin and GPR98. PDZ domain-containing 7 protein (PDZD7) is a paralog of the scaffolding p...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Society for Neuroscience
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3518401/ https://ncbi.nlm.nih.gov/pubmed/23055499 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.3071-12.2012 |
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