Download N-Acetylglutamate Synthase Deficiency - A Bibliography and by Philip M. Parker PDF

By Philip M. Parker

In March 2001, the nationwide Institutes of overall healthiness issued the subsequent caution: "The variety of sites supplying health-related assets grows on a daily basis. Many websites offer worthwhile details, whereas others could have info that's unreliable or misleading." additionally, due to the swift bring up in Internet-based info, many hours could be wasted looking, identifying, and printing. on account that purely the smallest fraction of data facing N-acetylglutamate synthase deficiency is listed in se's, equivalent to www.google.com or others, a non-systematic method of net examine may be not just time eating, but additionally incomplete. This booklet was once created for doctors, scholars, and contributors of most of the people who are looking to behavior scientific learn utilizing the main complex instruments to be had and spending the smallest amount of time doing so.

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Additional resources for N-Acetylglutamate Synthase Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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These conditions are usually inherited in one of several straightforward patterns, depending on the gene involved: Inheritance Pattern Autosomal dominant Description One mutated copy of the gene in each cell is sufficient for a person to be affected by an autosomal dominant disorder. Each affected person usually has one affected parent. Autosomal dominant disorders tend to occur in every generation of an affected family. Examples Huntington disease, neurofibromatosis type 1 Help Me Understand Genetics 33 Autosomal recessive Two mutated copies of the gene are present in each cell when a person has an autosomal recessive disorder.

This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Uninformative test results sometimes occur because everyone has common, natural variations in their DNA, called polymorphisms, that do not affect health. If a genetic test finds a change in DNA that has not been associated with a disorder in other people, it can be difficult to tell whether it is a natural polymorphism or a disease-causing mutation. An uninformative result cannot confirm or rule out a specific diagnosis, and it cannot indicate whether a person has an increased risk of developing a disorder.

Insertion: An insertion changes the number of DNA bases in a gene by adding a piece of DNA. As a result, the protein made by the gene may not function properly. • Deletion: A deletion changes the number of DNA bases by removing a piece of DNA. Small deletions may remove one or a few base pairs within a gene, while larger deletions can remove an entire gene or several neighboring genes. The deleted DNA may alter the function of the resulting protein(s). • Duplication: A duplication consists of a piece of DNA that is abnormally copied one or more times.

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