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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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書誌詳細
主要な著者: Grati, M'hamed, Shin, Jung-Bum, Weston, Michael D., Green, James, Bhat, Manzoor A., Gillespie, Peter G., Kachar, Bechara
フォーマット: Artigo
言語:Inglês
出版事項: Society for Neuroscience 2012
主題:
オンライン・アクセス: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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