Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “Linked Trans-Acting Epistasis”

Mutations in PRPF31 are responsible for autosomal dominant retinitis pigmentosa (adRP, RP11 form) and affected families show nonpenetrance. Differential expression of the wildtype PRPF31 allele is responsible for this phenomenon: coinheritance of a mutation and a higher expressing wildtype allele pr...

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Bibliografiske detaljer
Udgivet i:Ann Hum Genet
Main Authors: Rose, Anna M, Shah, Amna Z, Venturini, Giulia, Rivolta, Carlo, Rose, Geoffrey E, Bhattacharya, Shomi S
Format: Artigo
Sprog:Inglês
Udgivet: BlackWell Publishing Ltd 2013
Fag:
Short Communication
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4240469/
https://ncbi.nlm.nih.gov/pubmed/24116917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ahg.12042
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