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Most of the molecular defects have been detected in qualitative variants involving exon 28 of the vWF gene. Patients from four unrelated families with different types of vWD were included in the mutation screening of this region.

Sequence Analysis of VWF exon 28 detects germline variants associated with type 2B or type 2M von Willebrand disease (VWD). USA test status: This is a laboratory developed test (LDT).

The vWF gene spans a 178-kb genomic region with 52exons; exon 28 is 1379 bp long and is the largest exon.Exon 28 encodes the domains involved in FVIII binding(D3), platelet binding (A1), collagen binding (A3), andADAMTS-13 cleavage (A2).

2016年12月2日 · There is often a marked difference between VWF activity and VWF:Ag, with activity considerably lower than VWF:Ag. The A1 domain is the predominant mutation location (exon 28, AA 1229-1439), where missense mutations impair …

The exon 28 genetic analysis revealed the presence of numerous variants in the Saudi population. Most of these variations are normal variations in the VWF gene and do not affect the levels of VWF in the blood, while others have unknown significance or a pathogenic effect.

Exon 28 of the VWF gene is known to be a hot spot for type 2 VWD mutations. The goal of this study was to characterise the mutations in VWF exon 28 and understand the molecular basis of phenotypes through in vitro and in silico studies. Mutation screening was performed in 56 type 2 VWD patients through direct sequencing.

2010年7月15日 · We noted that a group of single nucleotide polymorphisms (SNPs) in exon 28 appeared frequently in the African American controls. These findings suggested the hypothesis that common polymorphisms in the A1 loop of VWF might affect the ristocetin-based activity assay and therefore lead to altered VWF:RCo/VWF:Ag ratios.

2010年7月15日 · For the African American controls, the presence of 3 exon 28 single nucleotide polymorphisms (SNPs), I1380V, N1435S, and D1472H, was associated with a significantly lower VWF:RCo/VWF:Ag ratio, whereas the presence of D1472H alone was associated with a decreased ratio in both African American and Caucasian controls.

2012年11月16日 · Exon 28 genetic analysis is usually undertaken to evaluate for VWD type 2 in patients with very low VWF:RCo, abnormal VWF:RCo/VWF:Ag ratio or abnormal multimers. Exon 28 polymorphism D1472H is associated with significantly lower VWF:RCo/ VWF:Ag ratio in healthy controls, due to altered ristocetin binding in the VWF:RCo assay.