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Two de novo factor VIII gene mutations in the family of an isolated severe haemophilia A patient

✍ Scribed by Z. KAPSIMALI; A. PAVLOVA; H. PERGANTOU; E. ADAMTZIKI; J. OLDENBURG; H. PLATOKOUKI


Book ID
108775833
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
134 KB
Volume
18
Category
Article
ISSN
1351-8216

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Two factor IX mutations in the family of
✍ A. J. Montandon; P. M. Green; D. R. Bentley; R. Ljung; I. M. Nilsson; F. Giannel πŸ“‚ Article πŸ“… 1990 πŸ› Springer 🌐 English βš– 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