This mutation, which affects the LDLR gene, has a particularly high prevalence among French Canadians, with 63% of individuals with heterozygous FH in Quebec, Canada carrying this specific deletion.
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Genetics of Hypercholesterolemia
The three main known genetic mutations in FH impact LDLR (most common), APOB (apolipoprotein B, about 10% of FH cases), or ...
Heart disease is a complex interplay of genetic factors and lifestyle choices. Familial Hypercholesterolemia serves as a ...
A mutation is a change in the sequence of an organism's DNA. What causes a mutation? Mutations can be caused by high-energy sources such as radiation or by chemicals in the environment.
Is it possible to have "too many" mutations? What about "too few"? While mutations are necessary for evolution, they can damage existing adaptations as well. The statement that mutations are ...
Researchers discovered that mammals - from tigers to humans - have roughly the same number of mutations by the time they die of old age. But short-lived animals tend to burn through their ...
Protein behavior can be predicted with simple math Mutations affect protein stability following remarkably simple rules Date: September 25, 2024 Source: Center for Genomic Regulation Summary ...
Clin Lipidology. 2013;8(4):407-409. Homozygous familial hypercholesterolemia is a rare but significant cause of early-onset coronary heart disease. Early detection and diagnosis is crucial in at ...
Since the virus was first identified a year ago, thousands of mutations have arisen. The vast majority of mutations are "passengers" and will have little impact, says Dr Lucy van Dorp, an expert ...
Ionizing radiation is a widely used physical agent to treat the seeds and other plant material of crops to create heritable mutations. Natural means to induce genetic diversity have been exploited for ...
Nat Clin Pract Cardiovasc Med. 2007;4(8):404-405. FH provides a model system for other treatable genetic disorders. Worldwide there are some 10 million people with FH, of whom 200,000 die ...
However, changes in the genome do occur. These are known as mutations. Mutations can have two results: no protein is expressed an altered protein is expressed Some mutations can affect a few bases ...