Article
Mutations in the human factor XII gene.
Blood - 15 Nov 1997
Schloesser M, Zeerleder S, Lutze G, Halbmayer W M, Hofferbert S, Hinney B, Koestering H, Lämmle B, Pindur G, Thies K, Köhler M, Engel W
Abstract excerpt
The factor XII gene from 31 unrelated factor XII-deficient patients from Germany, Switzerland, and Austria was screened for mutations at the genomic level. Several novel mutations were detected and their absence in a control group of 74 healthy unrelated individuals was checked. Most changes are in the serine protease domain affecting the catalytic triad His-393-Asp-442-Ser-544; two missense mutations, R398Q...
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