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Article

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.

Human genetics - 1 Oct 1990

Berg L P, Wieland K, Millar D S, Schlösser M, Wagner M, Kakkar V V, Reiss J, Cooper D N

Abstract excerpt

Specifically-primed reverse transcripts of lymphocyte-derived factor VIII (FVIII) mRNA were successfully amplified by means of the polymerase chain reaction (PCR) thus further extending the phenomenon of ectopic ("illegitimate") transcription of tissue-specific genes. The diagnostic potential of a basal rate of transcription in non-expressing tissues was then demonstrated by the detection of a novel point...

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Source

Identifiers

PMID: 2121641
DOI: 10.1007/BF00193593

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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.

Related research

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Research trail→

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Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.PMID 2121641Read ↗

Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease.Semantic proximity Read ↗

Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype.Semantic proximity Read ↗

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

Illegitimate transcription: its use in the study of inherited disease.Semantic proximity Read ↗

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis.Semantic proximity Read ↗

Ectopic mRNA analysis and molecular modelling substantiate severe haemophilia in a patient with a FVIII gene splice mutation.Semantic proximity Read ↗

Use of spontaneously mutated human DNA as competitive internal standard for nucleic acid quantification by reverse transcription-polymerase chain reaction (RT-PCR).Semantic proximity Read ↗

Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia.Semantic proximity Read ↗

Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.Semantic proximity Read ↗

A transcribed gene in an intron of the human factor VIII geneSemantic proximity Read ↗

When good transcripts go bad: artifactual RT-PCR 'splicing' and genome analysis.Semantic proximity Read ↗

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients.Semantic proximity Read ↗

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