ArticleHuman genetics1990
Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.
Article in Human genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 39 citations in OpenAlex.
- Detection of cytokeratins 19/20 and guanylyl cyclase C in peripheral blood of colorectal cancer patients.British journal of cancer · 1999Trial
- Identification of a new DMD gene deletion by ectopic transcript analysis.Journal of medical genetics · 1992Article
- Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts.Human genetics · 1992Article
- Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene.Journal of medical genetics · 1991Article
- Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.The Journal of clinical investigation · 1991Article
- Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.Nucleic acids research · 1991Article
- Identification of a silent point mutation in the LDL-receptor gene by direct DNA sequencing.Klinische Wochenschrift · 1991Article
- Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.American journal of human genetics · 1991Article
- Detection of human spermatid-specific transcripts in peripheral blood lymphocytes of males and females.Human genetics · 1991Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 mutation in the FVIII gene causing haemophilia A by PCR/direct sequencing of ectopically transcribed mRNA derived from patient lymphocytes.
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Registered trials
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