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

By Philip M. Parker

ISBN-10: 0497113287

ISBN-13: 9780497113285

ISBN-10: 1429496096

ISBN-13: 9781429496094

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 necessary details, whereas others can have details that's unreliable or misleading." moreover, end result of the fast bring up in Internet-based details, many hours will be wasted looking, deciding on, and printing. seeing that merely the smallest fraction of knowledge facing Andersen-Tawil syndrome is listed in se's, corresponding to www.google.com or others, a non-systematic method of web learn will be not just time eating, but in addition incomplete. This booklet used to be created for doctors, scholars, and individuals of most of the people who are looking to behavior clinical learn utilizing the main complicated instruments to be had and spending the smallest amount of time doing so.

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Additional resources for Andersen-Tawil Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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Although many polymorphisms have no negative effects on a person’s health, some of these variations may influence the risk of developing certain disorders. How Can Gene Mutations Affect Health and Development? To function correctly, each cell depends on thousands of proteins to do their jobs in the right places at the right times. Sometimes, gene mutations prevent one or more of these proteins from working properly. By changing a gene’s instructions for making a protein, a mutation can cause the protein to malfunction or to be missing entirely.

Gene regulation is an important part of normal development. Genes are turned on and off in different patterns during development to make a brain cell look and act different from a liver cell or a muscle cell, for example. Gene regulation also allows cells to react quickly to changes in their environments. Although we know that the regulation of genes is critical for life, this complex process is not yet fully understood. Gene regulation can occur at any point during gene expression, but most commonly occurs at the level of transcription (when the information in a gene’s DNA is transferred to mRNA).

The signs and symptoms of some genetic conditions tend to become more severe and appear at an earlier age as the disorder is passed from one generation to the next. This phenomenon is called anticipation. Anticipation is most often seen with certain genetic disorders of the nervous system, such as Huntington disease, myotonic dystrophy, and fragile X syndrome. Anticipation typically occurs with disorders that are caused by an unusual type of mutation called a trinucleotide repeat expansion. A trinucleotide repeat is a sequence of three DNA building blocks (nucleotides) that is repeated a number of times in a row.

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


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