DominantPRPF31Mutations Are Hypostatic to a RecessiveCNOT3Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “LinkedTrans-Acting Epistasis”
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Title
DominantPRPF31Mutations Are Hypostatic to a RecessiveCNOT3Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “LinkedTrans-Acting Epistasis”
Authors
Keywords
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Journal
ANNALS OF HUMAN GENETICS
Volume 78, Issue 1, Pages 62-71
Publisher
Wiley
Online
2013-10-14
DOI
10.1111/ahg.12042
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- (2012) Giulia Venturini et al. PLoS Genetics
- A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa
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- PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa
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- Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
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- Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs
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- (2009) Jason Gertz et al. THEORETICAL POPULATION BIOLOGY
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- (2008) Jing Yu Liu et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Nature, Nurture, or Chance: Stochastic Gene Expression and Its Consequences
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- Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay
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- Genetic architecture of complex traits: Large phenotypic effects and pervasive epistasis
- (2008) H. Shao et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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