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Different inactivating mutations in the LU genes of three individuals with the Lutheran-null phenotype

✍ Scribed by Vanja Karamatic Crew; Gary Mallinson; Carole Green; Joyce Poole; Makoto Uchikawa; Yoshihiko Tani; Christof Geisen; Johannes Oldenburg; Geoff Daniels


Book ID
109143449
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
224 KB
Volume
47
Category
Article
ISSN
0372-1248

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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