Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions
β Scribed by David S. Millar; Peter J. Green; Barbara Zoll; Vijay V. Kakkar; David N. Cooper
- Publisher
- Springer
- Year
- 1991
- Tongue
- English
- Weight
- 360 KB
- Volume
- 87
- Category
- Article
- ISSN
- 0340-6717
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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 b
Rapid identification of gene defects allows definite carrier and prenatal diagnosis in virtually every family with haemophilia B. We report a study of the family of an isolated patient. Analysis of all the essential regions of the patient's factor IX gene (promoter, exons, transcript processing sign