Alpha-1 Antitrypsin Deficiency - A Bibliography and by Philip M. Parker

By Philip M. Parker

In March 2001, the nationwide Institutes of future health issued the subsequent caution: "The variety of sites delivering health-related assets grows each day. Many websites offer beneficial details, whereas others can have info that's unreliable or misleading." additionally, end result of the quick bring up in Internet-based info, many hours should be wasted looking, picking out, and printing. due to the fact that basically the smallest fraction of knowledge facing Alpha-1 antitrypsin deficiency is listed in se's, comparable to www.google.com or others, a non-systematic method of net learn might be not just time eating, but in addition incomplete. This booklet used to be created for doctors, scholars, and participants 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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Extra resources for Alpha-1 Antitrypsin Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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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. For example, a trinucleotide repeat is made up of 3-base-pair sequences, and a tetranucleotide repeat is made up of 4-base-pair sequences. A repeat expansion is a mutation that increases the number of times that the short DNA sequence is repeated. This type of mutation can cause the resulting protein to function improperly.

Db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=16141711&query_hl=26&itool=pubmed_docsum • Serum alpha-1 proteinase inhibitor in advanced cancer: mass variants and functionally inert forms. Author(s): Chawla RK, Lawson DH, Sarma PR, Nixon DW, Travis J. Source: Cancer Research. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=3492270&query_hl=27&itool=pubmed_docsum • Severe alpha-1 antitrypsin deficiency diagnosed in an 86-year-old man. Author(s): Willson AB, Seow C, Zimmerman M. Source: Internal Medicine Journal.

Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). In some cases, inherited changes in mitochondrial DNA can cause problems with growth, development, and function of the body’s systems. These mutations disrupt the mitochondria’s ability to generate energy efficiently for the cell. Conditions caused by mutations in mitochondrial DNA often involve multiple organ systems. The effects of these conditions are most pronounced in organs and tissues that require a lot of energy (such as the heart, brain, and muscles).

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