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A novel δº mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families

✍ Scribed by R. J. Olds; T. Sura; B. Jackson; B. Wonke; A. V. Hoffbrand; S. L. Thein


Book ID
114712398
Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
829 KB
Volume
78
Category
Article
ISSN
0007-1048

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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