BIX

Monica Sacco1, Maria Francesca Testa2, Antonietta Ferretti3

  • 1Department of Translational Medicine and Surgery, Catholic University of the Sacred Heart, Rome, Italy.

概括

了解血友病B的基因型-表型关系对于解释未分类的因子IX (FIX) 变异至关重要. 这项研究分析了V92A FIX变体,揭示了中度功能障碍,并有助于解释其他未分类的FIX变体.

相关概念视频

Protein Complexes with Interchangeable Parts01:57

Protein Complexes with Interchangeable Parts

Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order to...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...