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Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa

Langmann, Thomas, Di Gioia, S. A., Rau, I., Stöhr, Heidi, Maksimovic, N. S., Corbo, J. C., Renner, Agnes B., Zrenner, Eberhart, Kumaramanickavel, G., Karlstetter, Marcus, Arsenijevic, Y. and Weber, Bernhard H. F. (2010) Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. American Journal of Human Genetics 87, pp. 376-381.

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Abstract

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 ...

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Item type:Article
Date:2010
Institutions:Medicine > Lehrstuhl für Augenheilkunde
Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1016/j.ajhg.2010.07.018DOI
20705278PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:35200
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