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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2010
Ämnen:
Report
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk