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A large family from Argentina with prekallikrein deficiency due to a compound heterozygosis (T insertion in intron 7 and Asp558Glu in exon 15): prekallikrein Cordoba.

AuthorsAntonio Girolami, Sebastian Marun, Silvia Vettore, Gilda Scaliter, Angelica Molina, Pamela Scarparo, Aldo Tabares, Anna Maria Lombardi
JournalAmerican journal of hematology (Am J Hematol) Vol. 85 Issue 5 Pg. 363-6 (May 2010) ISSN: 1096-8652 [Electronic] United States
PMID20301226 (Publication Type: Case Reports, Letter)
Chemical References
  • Prekallikrein
Topics
  • Adult
  • Argentina
  • Exons
  • Female
  • Heterozygote
  • Humans
  • Introns
  • Male
  • Mutagenesis, Insertional
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Prekallikrein (deficiency, genetics)
  • Venous Thrombosis (genetics)

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