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Article

Phenotypic consequences of branch point substitutions.

Human mutation - 1 Aug 2006

Královicová Jana, Lei Haixin, Vorechovský Igor

Abstract excerpt

The branch point sequence (BPS) is a conserved splicing signal important for spliceosome assembly and lariat intron formation. BPS mutations may result in aberrant pre-mRNA splicing and genetic disorders, but their phenotypic consequences have been difficult to predict, largely due to a highly degenerate nature of the BPS consensus. Here, we have examined the splicing pattern of nine reporter pre-mRNAs that have...

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Identifiers

PMID: 16835862
DOI: 10.1002/humu.20362

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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