Article
Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands.
Proceedings of the National Academy of Sciences of the United States of America - 1 Sept 1993
Zhang Z P, Blombäck M, Nyman D, Anvret M
Abstract excerpt
Patients with von Willebrand disease in four families in the Aland Islands, including the original family that was described in 1926 by the Finnish physician von Willebrand, were screened for mutations in the Swedish "hot-spot" regions (exons 18, 28, 32, 43, and 45) of the von Willebrand factor gene. One cytosine deletion in exon 18 was detected in each of these families. Linkage analysis and genealogical studies...
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