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A Complex Splicing Defect Associated With Homozygous Ankyrin-Deficient Hereditary Spherocytosis
(Amer Soc Hematology, 2007)
Defects in erythrocyte ankyrin are the most common cause of typical, dominant hereditary spherocytosis (HS). Detection of ankyrin gene mutations has been complicated by allelic heterogeneity, large gene size, frequent de ...
Natural History And Early Diagnosis Of Lad-1/Variant Syndrome
(Amer Soc Hematology, 2007)
The syndrome of leukocyte adhesion deficiency (LAD) combined with a severe Glanzmann-type bleeding disorder has been recognized as a separate disease entity. The variability in clinical and cell biological terms has remained ...
Significance of Factor V, Prothrombin, Mthfr, and Pai-1 Genotypes in Childhood Cerebral Thrombosis
(Sage Publications Inc, 2007)
The aim of this study was to evaluate the significance of factor V (FV) G1691A, prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, and plasminogen activator inhibitor-1 (PAI-1) 4G/5G genotypes in ...