Article
Why does the mutation G17736A/Val107Val (silent) in the F9 gene cause mild haemophilia B in five Swedish families?
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2008
Knobe K E, Sjörin E, Ljung R C R
Abstract excerpt
The mutation G17736A/Val107Val (silent) was found in five of a total of 86 families with haemophilia B in Sweden. It is unlikely that five families with analogous clinical expression will have the same polymorphism, which is not found in other patients or normal subjects, or that they will be the only families in the population without any other causative mutation. All affected individuals in the five families...
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