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Novel Hax1 Mutations In Patients With Severe Congenital Neutropenia Reveal Isoform-Dependent Genotype-Phenotype Associations
(Amer Soc Hematology, 2008)
Homozygous mutations in HAX1 cause an autosomal recessive form of severe congenital neutropenia (CN). By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations. ...
Severe Arterial Thrombophilia Associated with a Homozygous Mthfr Gene Mutation (A1298C) in a Young Man with Klinefelter Syndrome
(Sage Publications Inc, 2008)
Klinefelter syndrome (KS) is the most common sex chromosome disorder in men. It may be associated with an increased risk for venous thrombosis and thromboembolism, which is partially explained by hypofibrinolysis due to ...