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Article

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene.

Lancet (London, England) - 16 Mar 1991

Naylor J A, Green P M, Montandon A J, Rizza C R, Giannelli F

Abstract excerpt

In an attempt to replace the existing, DNA-based, 50% effective, carrier and prenatal diagnoses of haemophilia A with the 100% successful direct detection of defective genes, a new procedure was developed to screen and identify mutations in all the essential regions of the factor VIII gene (putative promoter, coding sequence, and the cleavage and polyadenylation region). Genomic DNA and cDNA obtained by reverse...

Topics

Adult
Aged
Antibodies
DNA
Evaluation Studies as Topic
Exons
Factor VIII
Hemophilia A
Humans
Lymphocytes
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oligonucleotide Probes

Polymerase Chain Reaction

RNA, Messenger

Time Factors

Source

Identifiers

PMID: 1671991
DOI: 10.1016/0140-6736(91)92450-g

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1671991-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene.PMID 1671991Read ↗

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