Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus...

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Detalhes bibliográficos
Main Authors: Friedman, James S., Ray, Joseph W., Waseem, Naushin, Johnson, Kory, Brooks, Matthew J., Hugosson, Therése, Breuer, Debra, Branham, Kari E., Krauth, Daniel S., Bowne, Sara J., Sullivan, Lori S., Ponjavic, Vesna, Gränse, Lotta, Khanna, Ritu, Trager, Edward H., Gieser, Linn M., Hughbanks-Wheaton, Dianna, Cojocaru, Radu I., Ghiasvand, Noor M., Chakarova, Christina F., Abrahamson, Magnus, Göring, Harald H.H., Webster, Andrew R., Birch, David G., Abecasis, Goncalo R., Fann, Yang, Bhattacharya, Shomi S., Daiger, Stephen P., Heckenlively, John R., Andréasson, Sten, Swaroop, Anand
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2694974/
https://ncbi.nlm.nih.gov/pubmed/19520207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.05.007
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