Alstrom Syndrome - A Bibliography and Dictionary for - download pdf or read online

By Philip M. Parker

ISBN-10: 0497113244

ISBN-13: 9780497113247

ISBN-10: 1429496134

ISBN-13: 9781429496131

In March 2001, the nationwide Institutes of health and wellbeing issued the next caution: "The variety of websites delivering health-related assets grows each day. Many websites supply important info, whereas others can have details that's unreliable or misleading." additionally, due to the speedy elevate in Internet-based details, many hours could be wasted looking out, opting for, and printing. considering that in basic terms the smallest fraction of knowledge facing Alstr?m syndrome is listed in se's, akin to www.google.com or others, a non-systematic method of web learn will be not just time eating, but additionally incomplete. This ebook used to be created for doctors, scholars, and contributors of most people who are looking to behavior clinical study utilizing the main complex instruments on hand and spending the smallest amount of time doing so.

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Extra info for Alstrom Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

Example text

By changing a gene’s instructions for making a protein, a mutation can cause the protein to malfunction or to be missing entirely. When a mutation alters a protein that plays a critical role in the body, it can disrupt normal development or cause a medical condition. A condition caused by mutations in one or more genes is called a genetic disorder. In some cases, gene mutations are so severe that they prevent an embryo from surviving until birth. These changes occur in genes that are essential for development, and often disrupt the development of an embryo in its earliest stages.

In most cases, the location describes the position of a particular band on a stained chromosome: 17q12 It can also be written as a range of bands, if less is known about the exact location: 17q12-q21 The combination of numbers and letters provide a gene’s “address” on a chromosome. This address is made up of several parts: • The chromosome on which the gene can be found. The first number or letter used to describe a gene’s location represents the chromosome. Chromosomes 1 through 22 (the autosomes) are designated by their chromosome number.

This type of mutation is present throughout a person’s life in virtually every cell in the body. Mutations that occur only in an egg or sperm cell, or those that occur just after fertilization, are called new (de novo) mutations. De novo mutations may explain genetic disorders in which an affected child has a mutation in every cell, but has no family history of the disorder. Acquired (or somatic) mutations occur in the DNA of individual cells at some time during a person’s life. These changes can be caused by environmental factors such as ultraviolet radiation from the sun, or can occur if a mistake is made as DNA copies itself during cell division.

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


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