3-Methylglutaconic Aciduria - A Bibliography and Dictionary by Philip M. Parker

By Philip M. Parker

In March 2001, the nationwide Institutes of healthiness issued the next caution: "The variety of websites delivering health-related assets grows on a daily basis. Many websites supply helpful info, whereas others can have details that's unreliable or misleading." in addition, due to the speedy bring up in Internet-based details, many hours will be wasted looking out, deciding on, and printing. considering merely the smallest fraction of knowledge facing 3-methylglutaconic aciduria is listed in se's, reminiscent of www.google.com or others, a non-systematic method of net study might be not just time eating, but additionally incomplete. This publication used to be created for doctors, scholars, and individuals of most people who are looking to behavior scientific examine utilizing the main complex instruments on hand and spending the smallest amount of time doing so.

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Extra resources for 3-Methylglutaconic Aciduria - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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Frameshift mutation: This type of mutation occurs when the addition or loss of DNA bases changes a gene’s reading frame. A reading frame consists of groups of 3 bases that each code for one amino acid. A frameshift mutation shifts the grouping of these bases and changes the code for amino acids. The resulting protein is usually nonfunctional. Insertions, deletions, and duplications can all be frameshift mutations. • Repeat expansion: Nucleotide repeats are short DNA sequences that are repeated a number of times in a row.

Factors that Influence the Effects of Particular Genetic Changes Reduced penetrance and variable expressivity are factors that influence the effects of particular genetic changes. These factors usually affect disorders that have an autosomal dominant pattern of inheritance, although they are occasionally seen in disorders with an autosomal recessive inheritance pattern. Reduced Penetrance Penetrance refers to the proportion of people with a particular genetic change (such as a mutation in a specific gene) who exhibit signs and symptoms of a genetic disorder.

A complete record includes information from three generations of relatives, 44 3-Methylglutaconic Aciduria including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins. Families have many factors in common, including their genes, environment, and lifestyle. Together, these factors can give clues to medical conditions that may run in a family. By noticing patterns of disorders among relatives, healthcare professionals can determine whether an individual, other family members, or future generations may be at an increased risk of developing a particular condition.

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