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Toplam kayıt 17, listelenen: 1-10
Functional Characterization of the Type 1 VWD Candidate VWF Gene Variants: P.M771I, p.L881R, p.P1413L, and p.Q1475X
(AMER SOC HEMATOLOGY, 2012)
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Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p. M771I, p. L881R and p. P1413L
(SIMTI Servizi, 2017)
Background. Abnormalities in the biosynthetic pathway or increased clearance of plasma von Willebrand factor (VWF) are likely to contribute to decreased plasma VWF levels in inherited type 1 von Willebrand disease (VWD). ...
Identification of novel vwf gene mutations in the Turkish type 2 VWD patient population
(Wiley Blackwell, 2015)
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Sex-change surgery in a type 3 VWD patient
(Wiley, 2011)
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Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families
(Simti Servizi SRL, 2018)
Background. Factor XI (FXI) deficiency is an autosomal bleeding disease associated with genetic defects in the F11 gene which cause decreased FXI levels or impaired FXI function. An increasing number of mutations has been ...
Lack of association of plasma factor XI with bleeding and report of two novel factor VII mutations
(Pergamon-Elsevier Science, 2016)
7th International Eurasian Hematology Congress
A common VWF exon 28 haplotype in the Turkish population
(Elsevier, 2013)
An increasing number of mutations and polymorphisms have been identified in the von Willebrand factor (VWF) gene of patients with von Willebrand disease (VWD). Most of the sequence alterations are within exon 28, duplicated ...
Regional hemophilia project in Turkey
(Wiley, 2016)
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