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Article

Predicting severity of haemophilia A and B splicing mutations by information analysis.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2006

von Kodolitsch Y, Berger J, Rogan P K

Abstract excerpt

Bleeding symptoms and clotting activity vary among mutations that alter mRNA splicing of either the factor VIII or factor IX genes. We analyzed splicing mutations in both genes for changes in individual information (R(i), in bits) involving both donor or acceptor sites. Mutations with low or negative R(i) values (<2.4 bits) or significant changes in R(i) (DeltaR(i) > or = 7 bits) exhibited either reduced protein...

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Identifiers

PMID: 16643211
DOI: 10.1111/j.1365-2516.2006.01216.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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