Direct mutation analysis as the preferred method for carrier diagnosis in families with isolated cases of haemophilia B

Two factor IX mutations in the family of

Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD)

✍ A. J. Montandon; P. M. Green; D. R. Bentley; R. Ljung; I. M. Nilsson; F. Giannel 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 855 KB

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