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The Clinical and Laboratory Evaluation of Familial Hemophagocytic Lymphohistiocytosis and the Importance of Hepatic and Spinal Cord Involvement: A Single Center Experience
(2018)
Familial hemophagocytic lymphohistiocytosis is an autosomal recessive, life-threatening condition characterized by defective immune response. A retrospective analysis was performed on 57 patients diagnosed with familial ...
Mechanism For Survival Of Homozygous Nonsense Mutations In The Tumor Suppressor Gene Brca1
(Natl Acad Sciences, 2018)
BRCA1 is essential for repair of DNA double-strand breaks by homologous recombination, and hence for survival. Complete loss of its function is lethal during early embryonic development. Patients who are compound heterozygous ...
Methylenetetrahydrofolate Reductase Polymorphisms And Pregnancy Outcome
(2018)
Introduction Aim of the study was to evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) polymorphisms on pregnancy outcome. , Materials and Methods A total of 617 pregnancies of women who were investigated ...