Article
ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13.
British journal of haematology - 1 Mar 2003
Antoine Gerhard, Zimmermann Klaus, Plaimauer Barbara, Grillowitzer Monika, Studt Jan-Dirk, Lämmle Bernhard, Scheiflinger Friedrich
Abstract excerpt
Genetic analysis of the ADAMTS13 locus identified six mutations in the ADAMTS13 genes of two brothers suffering from constitutional thrombotic thrombocytopenic purpura (TTP): a stop codon leading to a truncated protein on the paternal ADAMTS13 allele and five amino acid exchanges on the maternal allele, three of which were single nucleotide polymorphisms. The other two mutations, not detected in 230 sequenced...
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