Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyOptogenetic approaches to retinal prosthesisA Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosaA dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis PigmentosaMutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesHigh prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.Exome-based mapping and variant prioritization for inherited Mendelian disorders.Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.
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P2860
Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa
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Mutations in the small nuclear ...... dominant retinitis pigmentosa
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Mutations in the small nuclear riboprotein 200 kDa gene
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Mutations in the small nuclear ...... dominant retinitis pigmentosa
@en
Mutations in the small nuclear riboprotein 200 kDa gene
@nl
prefLabel
Mutations in the small nuclear ...... dominant retinitis pigmentosa
@en
Mutations in the small nuclear riboprotein 200 kDa gene
@nl
P2093
P2860
P1433
P1476
Mutations in the small nuclear ...... dominant retinitis pigmentosa
@en
P2093
Austin Roorda
Cheryl E Avery
David G Birch
Dianna H Wheaton
Elizabeth M Sasser
Jacque L Duncan
John R Heckenlively
Kari E Branham
Lori S Sullivan
Paul A Sieving
P2860
P304
P577
2013-11-24T00:00:00Z