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- W2079774878 abstract "Using an mRNA-based method to examine haemophilia A mutations we provide an explanation for the puzzling report that half of the mutations causing severe disease are not detected by analysis of the putative promoter, exons, and most exon/intron boundaries of the factor VIII gene. An unusual cluster of mutations involving regions of intron 22 not examined earlier leads to defective joining of exons 22 and 23 in the mRNA and caused haemophilia A in 10/24 severely affected UK patients." @default.
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- W2079774878 date "1992-10-01" @default.
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- W2079774878 title "Factor VIII gene explains all cases of haemophilia A" @default.
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- W2079774878 doi "https://doi.org/10.1016/0140-6736(92)93080-7" @default.
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