Tracking Col1a1 RNA in Osteogenesis Imperfecta: Splice-Defective Transcripts Initiate Transport from the Gene but Are Retained within the Sc35 Domain

This study illuminates the intra-nuclear fate of COL1A1 RNA in osteogenesis imperfecta (OI) Type I. Patient fibroblasts were shown to carry a heterozygous defect in splicing of intron 26, blocking mRNA export. Both the normal and mutant allele associated with a nuclear RNA track, a localized accumul...

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Hauptverfasser: Johnson, Carol, Primorac, Dragan, McKinstry, Monique, McNeil, John, Rowe, David, Lawrence, Jeanne Bentley
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Rockefeller University Press 2000
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2175183/
https://ncbi.nlm.nih.gov/pubmed/10931857
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