PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP). It frequently presents with unexplained, often intrafamilial, variability of the visual phenotype. Although 9 genes have been linked with Usher syndrome, many patients do not...

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Detalhes bibliográficos
Main Authors: Ebermann, Inga, Phillips, Jennifer B., Liebau, Max C., Koenekoop, Robert K., Schermer, Bernhard, Lopez, Irma, Schäfer, Ellen, Roux, Anne-Francoise, Dafinger, Claudia, Bernd, Antje, Zrenner, Eberhart, Claustres, Mireille, Blanco, Bernardo, Nürnberg, Gudrun, Nürnberg, Peter, Ruland, Rebecca, Westerfield, Monte, Benzing, Thomas, Bolz, Hanno J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2010
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2877930/
https://ncbi.nlm.nih.gov/pubmed/20440071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI39715
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