Heterozygous familial hypercholesterolemia (HeFH) is a genetic disorder a person can inherit from a parent. It can cause a person to develop dangerously high cholesterol levels. HeFH affects how a ...

The non-receptor tyrosine kinase, focal adhesion kinase (FAK), can signal downstream of integrins and growth factor receptors 1. FAK is expressed ubiquitously and has essential roles in a number of ...

Homozygous deficiency of alpha 1-atitrypsin is known to predispose to pulmonary emphysema. Measurement of the trypsin inhibitory capacity (TIC) of serum specimens from 28 relatives of a homozygous ...

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. The C677T in the gene that encodes MTHFR decreases the activity of ...

Heterozygous familial hypercholesterolemia (HeFH) is a monogenic disorder that affects about 1 in 500 people, with a higher prevalence in certain subpopulations such as people of Quebecois, Christian ...

Sickle Cell Anaemia is an inherited disease, which lowers haemoglobin levels making it difficult for red blood cells to carry oxygen to various parts of the body. High incidence of Sickle Cell Disease ...