BACKGROUND Von Willebrand disease (VWD) is an autosomal recessive congenital bleeding disorder with deficiency or dysfunction of von Willebrand factor (VWF). The gene encoding for the VWF is located on chromosome 12, which is 178 Kb with 52 exons. Various mutations of this gene is responsible for the clinical features of VWD, but some single nucleotide polymorphisms make the molecular diagnosis...

While the role of KRAS gene mutations has been widely accepted for predicting responses to anti-EGFR therapy in patients with colorectal cancer, although this study was based on observation of a single case it gives hope that some KRAS gene mutation may have favorable prognosis. More studies are required on patients with similar mutation to validate this finding.

Staphylococcus aureus carrying PVL gene remain major health problem associated with highly virulent infections. Characterization of such gene is important to know the impact and the functional significance of nucleotide variations. PCR and standard sequencing were performed for twelve Sudanese strains from different sources. Protein structures prediction, modeling and physiochemical analysis we...

congenital generalized lipodystrophies (cgls) are very rare autosomal recessive disorders which have four types.of the four cgl types, bscl2 (berardinelli–seip congenital lipodystrophy type 2) is the result of mutations in the bscl2/seipingene.bscl2 which is the most severe lipodystrophic phenotype is characterized by generalized lipodystrophy, overgrowth,acanthosisnigricans, hepatomegaly, insu...

staphylococcus aureus carrying pvl gene remain major health problem associated with highly virulent infections. characterization of such gene is important to know the impact and the functional significance of nucleotide variations. pcr and standard sequencing were performed for twelve sudanese strains from different sources. protein structures prediction, modeling and physiochemical analysis we...

background : we conducted the present study to investigate the frequency of prothrombin g20210a mutation among acute lymphoblastic leukemia patients and healthy individuals from western iran and to detect the possible association between this mutation and the risk of acute lymphoblastic leukemia in our population. methods : the studied groups consisted of 92 children with acute lymphoblastic le...