Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a degenerative disease of the retina leading to progressive loss of vision and, in many instances, to legal blindness at the end stage. The RP28 locus was assigned in 1999 to the short arm of chromosome 2 by homozygosity mapping in a large Indian family segregating autos...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Langmann, Thomas, Di Gioia, Silvio Alessandro, Rau, Isabella, Stöhr, Heidi, Maksimovic, Nela S., Corbo, Joseph C., Renner, Agnes B., Zrenner, Eberhart, Kumaramanickavel, Govindasamy, Karlstetter, Marcus, Arsenijevic, Yvan, Weber, Bernhard H.F., Gal, Andreas, Rivolta, Carlo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2010
Pynciau:
Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2933350/
https://ncbi.nlm.nih.gov/pubmed/20705278
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.07.018
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