Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

@article{Langmann2010NonsenseMI,
  title={Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.},
  author={Thomas Langmann and Silvio Alessandro Di Gioia and Isabella Rau and Heidi Stoehr and Nela S Maksimovic and Joseph C Corbo and Agnes B. Renner and Eberhart Zrenner and Govindasamy Kumaramanickavel and Marcus Karlstetter and Yvan Arsenijevic and Bernhard H F Weber and Andreas Gal and Carlo Rivolta},
  journal={American journal of human genetics},
  year={2010},
  volume={87 3},
  pages={376-81}
}
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 autosomal-recessive RP (arRP). Following a combined approach of chromatin immunoprecipitation and parallel sequencing of genomic DNA, we identified a gene, FAM161A, which was shown to carry a homozygous… CONTINUE READING

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