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

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Published in:American journal of hematology 2010-05, Vol.85 (5), p.363-366
Main Authors: Girolami, Antonio, Marun, Sebastian, Vettore, Silvia, Scaliter, Gilda, Molina, Angelica, Scarparo, Pamela, Tabares, Aldo, Lombardi, Anna Maria
Format: Article
Language:English
Subjects:
Adult
Argentina
Biological and medical sciences
Exons
Female
Hematologic and hematopoietic diseases
Heterozygote
Humans
Introns
Male
Medical sciences
Mutagenesis, Insertional
Pedigree
Platelet diseases and coagulopathies
Polymorphism, Single Nucleotide
Prekallikrein - deficiency
Prekallikrein - genetics
Venous Thrombosis - genetics
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cited_by cdi_FETCH-LOGICAL-c3574-3f2ef4608f0bea87349a1b9db1dad353d2732ccdee3766ed319ed69e60a01a8e3
cites cdi_FETCH-LOGICAL-c3574-3f2ef4608f0bea87349a1b9db1dad353d2732ccdee3766ed319ed69e60a01a8e3
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container_issue 5
container_start_page 363
container_title American journal of hematology
container_volume 85
creator Girolami, Antonio
Marun, Sebastian
Vettore, Silvia
Scaliter, Gilda
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Scarparo, Pamela
Tabares, Aldo
Lombardi, Anna Maria
description
doi_str_mv 10.1002/ajh.21654
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source Wiley-Blackwell Read & Publish Collection
subjects Adult
Argentina
Biological and medical sciences
Exons
Female
Hematologic and hematopoietic diseases
Heterozygote
Humans
Introns
Male
Medical sciences
Mutagenesis, Insertional
Pedigree
Platelet diseases and coagulopathies
Polymorphism, Single Nucleotide
Prekallikrein - deficiency
Prekallikrein - genetics
Venous Thrombosis - genetics
title 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
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