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Factor VIII mutations in 42 Moldovan haemophilia A families, including 12 that are novel

โœ Scribed by N. SIROCOVA; V. TSOUREA; M. VICOL; N. BARBACAR; S. M. NAKAYA; A. R. THOMPSON; K. P. PRATT


Book ID
108773333
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
248 KB
Volume
15
Category
Article
ISSN
1351-8216

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Using chemical mismatch analysis or denaturing gradient gel electrophoresis followed by nucleotide sequencing, we have identified the same G6545A mutation leading to an Arg 2163 His substitution in the factor VIII gene of three haemophiliacs from unrelated families. One of the affected individuals h