By Philip M. Parker

In March 2001, the nationwide Institutes of future health issued the next caution: "The variety of websites providing health-related assets grows each day. Many websites offer worthwhile info, whereas others could have details that's unreliable or misleading." in addition, a result of quick elevate in Internet-based details, many hours could be wasted looking, choosing, and printing. for the reason that in simple terms the smallest fraction of data facing Achondrogenesis is listed in se's, equivalent to www.google.com or others, a non-systematic method of web examine might be not just time eating, but in addition incomplete. This ebook was once created for doctors, scholars, and contributors of most people who are looking to behavior clinical learn utilizing the main complex instruments to be had and spending the smallest amount of time doing so.

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Additional info for Achondrogenesis - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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Nonsense mutation: A nonsense mutation is also a change in one DNA base pair. Instead of substituting one amino acid for another, however, the altered DNA sequence prematurely signals the cell to stop building a protein. This type of mutation results in a shortened protein that may function improperly or not at all. • 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.

X-linked recessive inheritance: Because of the difference in sex chromosomes, the probability of passing on an X-linked recessive disorder also differs between men and women. The sons of a man with an X-linked recessive disorder will not be affected, and his daughters will carry one copy of the mutated gene. With each pregnancy, a woman who carries an X-linked recessive disorder has a 50 percent chance of having sons who are affected and a 50 percent chance of having daughters who carry one copy of the mutated gene.

Db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=6726882&query_hl=19&itool=pubmed_docsum • Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. Author(s): Cai G, Nakayama M, Hiraki Y, Ozono K. Source: American Journal of Medical Genetics. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=9637425&query_hl=19&itool=pubmed_docsum • New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. Author(s): Unger S, Le Merrer M, Meinecke P, Chitayat D, Rossi A, Superti-Furga A.

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