Restriction fragment length polymorphism analysis, the polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (G----T) at nucleotide 8863 in the C1-inhibitor gene. This destroys the 5' donor splice site recognition motif of the sixth intron. Fam
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A case of hereditary angio-oedema type III presenting with C1-inhibitor cleavage and a missense mutation in the F12 gene
โ Scribed by L. Bouillet; D. Ponard; H. Rousset; S. Cichon; C. Drouet
- Book ID
- 108669326
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 331 KB
- Volume
- 156
- Category
- Article
- ISSN
- 0007-0963
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TABLE I. Colony-Forming Assay From CD34 + Bone Marrow Cells Serum a BFU-E/10 2 CD34 + cells Control 1 50.2 ยฑ 4.6 Control 2 48.5 ยฑ 14.1 Before chemotherapy 24.4 ยฑ 6.2 b After chemotherapy 50.5 ยฑ 6.5 Values are means ยฑ SD of triplicate cultures. a Control 1; normal AB serum, Control 2; serum from a pa