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[Part 1: Biological Sciences] || Intron Splicing: A Conserved Internal Signal in Introns of Animal Pre-mRNAs

โœ Scribed by Elizabeth B. Keller and William A. Noon


Book ID
123631483
Publisher
National Academy of Sciences
Year
1984
Tongue
English
Weight
701 KB
Volume
81
Category
Article
ISSN
0027-8424

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A point mutation in the lariat branch po
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The lariat branch point sequence (BPS) is crucial for splicing pre-mRNA even if BPS mutations have infrequently been reported in human disease. In two siblings with Niemann-Pick type C (NPC) disease we identified two mutations of the NPC1 gene: i) one in exon 20 (c.2932C>T) (p.R978C) previously repo