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.
Girolami
Antonio
A
Marun
Sebastian
S
Vettore
Silvia
S
Scaliter
Gilda
G
Molina
Angelica
A
Scarparo
Pamela
P
Tabares
Aldo
A
Lombardi
Anna Maria
AM
D000328:Adult; D001118:Argentina; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D016254:Mutagenesis, Insertional; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011288:Prekallikrein / Q000172:deficiency* / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics*
D011288:Prekallikrein