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CARRIER DETECTION BY DIRECT GENE ANALYSIS IN A FAMILY WITH HAEMOPHILIA B (FACTOR IX DEFICIENCY)

✍ Scribed by Peake, I.R.; Furlong, B.L.; Bloom, A.L.


Book ID
121886310
Publisher
The Lancet
Year
1984
Tongue
English
Weight
265 KB
Volume
323
Category
Article
ISSN
0140-6736

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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