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Article

Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.

Human genetics - 1 Oct 1997

Tavassoli K, Eigel A, Pollmann H, Horst J

Abstract excerpt

Mutational analysis of the gene for clotting factor VIII is complicated by its large size, the high frequency of de novo mutations and its tissue-specific expression. In order to facilitate the search for mutations, we have used a combination of reverse transcription-polymerase chain reaction (RT-PCR) of ectopic factor VIII transcripts, PCR of genomic DNA, single-strand conformation polymorphism analysis and...

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Identifiers

PMID: 9341862
DOI: 10.1007/s004390050543

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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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Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.PMID 9341862Read ↗

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Characterisation and quantification of F8 transcripts of ten putative splice site mutations.Semantic proximity Read ↗

Characterization of a splicing mutation in the factor VIII gene at the RNA level.Semantic proximity Read ↗

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Molecular characterization of ten F8 splicing mutations in RNA isolated from patient's leucocytes: assessment of in silico prediction tools accuracy.Semantic proximity Read ↗

Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations.Semantic proximity Read ↗

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