Table 1. Mutations in the factor VIII gene, identified in 12 unrelated individuals of German origin, clinical


severity, and conservation of the mutated amino-acids in human factor V, human ceruloplasmin and mouse


factor VIII.


Exon Amino-acid Nucleotide Patient/ Conservation* Clinical Reference


change change carrier severity


4 V162M c.541G>A RM mF8 mild Diamond et al. 1992


5 E204N c.669A>T GW mF8, hF5,hCeru mild Present study


7 E265X c.850G>T TB - severe Present study


8 M320T c.1016T>C PL mF8,hF5 moderate Present study


9 F436C c.1362T>G SF mF8, hF5,hCeru mild/moderate Present study


11 R527W c.1636C>T EH mF8 mild Schwaab et al. 1995


11 S535C c.1660A>T DI mF8 moderate Present study


18 R1966X c.5953C>T RW - severe Reiner and


Thompson 1992


23 N2129M c.6443A>G BP mF8,hF5 mild Present study


23 R2159C c.6532C>T JK mF8, hF5 mild Diamond et al. 1992


26 R2307P c.6977G>C TL mF8, hF5 severe Present Study


*: mF8: mouse factor VIII; hF5: human factor V; hCeru: human ceruloplasmin





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