Download Arginase Deficiency - A Bibliography and Dictionary for by Philip M. Parker PDF

By Philip M. Parker

ISBN-10: 0497113341

ISBN-13: 9780497113346

ISBN-10: 1429496037

ISBN-13: 9781429496032

In March 2001, the nationwide Institutes of healthiness issued the next caution: "The variety of sites supplying health-related assets grows each day. Many websites supply priceless details, whereas others could have info that's unreliable or misleading." in addition, as a result of fast raise in Internet-based info, many hours will be wasted looking out, deciding on, and printing. on account that merely the smallest fraction of knowledge facing Arginase deficiency is listed in se's, comparable to www.google.com or others, a non-systematic method of net learn should be not just time eating, but additionally incomplete. This booklet used to be created for doctors, scholars, and participants of most people who are looking to behavior clinical examine utilizing the main complicated instruments to be had and spending the smallest amount of time doing so.

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Extra resources for Arginase Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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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.

Monosomy, or the loss of one chromosome from each cell, is another kind of aneuploidy. “Mono-” is Greek for “one”; people with monosomy have one copy of a particular chromosome in each cell instead of the normal two copies. Turner syndrome is a condition caused by monosomy. Women with Turner syndrome are often missing one copy of the X chromosome in every cell, for a total of 45 chromosomes per cell. Chromosomal disorders can also be caused by changes in chromosome structure. These changes are caused by the breakage and reunion of chromosome segments when an egg or sperm cell is formed or in early fetal development.

Some disorders, such as sickle cell anemia and cystic fibrosis, are caused by mutations in a single gene. The causes of many other disorders, however, are much more complex. Common medical problems such as heart disease, diabetes, and obesity do not have a single genetic cause—they are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. Conditions caused by many contributing factors are called complex or multifactorial disorders. Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance.

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Arginase Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker


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