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Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)

Clarin 1 (CLRN1) is a four-transmembrane protein expressed in cochlear hair cells and neural retina, and when mutated it causes Usher syndrome type 3 (USH3). The main human splice variant of CLRN1 is composed of three exons that code for a 232-aa protein. In this study, we aimed to refine the struct...

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Detalhes bibliográficos
Main Authors: Västinsalo, Hanna, Jalkanen, Reetta, Dinculescu, Astra, Isosomppi, Juha, Geller, Scott, Flannery, John G, Hauswirth, William W, Sankila, Eeva-Marja
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3039507/
https://ncbi.nlm.nih.gov/pubmed/20717163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.140
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