By Philip M. Parker

ISBN-10: 0497112256

ISBN-13: 9780497112257

ISBN-10: 1429497548

ISBN-13: 9781429497541

In March 2001, the nationwide Institutes of future health issued the next caution: "The variety of sites supplying health-related assets grows on a daily basis. Many websites supply precious info, whereas others could have details that's unreliable or misleading." additionally, end result of the fast bring up in Internet-based info, many hours should be wasted looking out, deciding on, and printing. when you consider that purely the smallest fraction of knowledge facing AB variation GM2-Gangliosidosis is listed in se's, similar to www.google.com or others, a non-systematic method of web examine should be not just time eating, but in addition incomplete. This booklet used to be created for doctors, scholars, and individuals of most people who are looking to behavior scientific study utilizing the main complex instruments to be had and spending the smallest amount of time doing so.

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Additional resources for AB Variant GM2-Gangliosidosis - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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Db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=6848657&query_hl=64&itool=pubmed_docsum • Thermodynamic determination of plasma and leukocyte beta-hexosaminidase isoenzymes in homozygote and heterozygote carriers for the GM2 gangliosidosis B1 variant. Author(s): Casal JA, Perez LF, Tutor JC. Source: American Journal of Clinical Pathology. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=12760286&query_hl=64&itool=pubmed_docsum • Toward enzyme therapy in Gm2 gangliosidosis: beta-hexosaminidase infusion in normal cats.

Genomic imprinting is a factor that influences how some genetic conditions are inherited. People inherit two copies of their genes—one from their mother and one from their father. Usually both copies of each gene are active, or “turned on,” in cells. In some cases, however, only one of the two copies is normally turned on. Which copy is active depends on the parent of origin: some genes are normally active only when they are inherited from a person’s father; others are active only when inherited from a person’s mother.

The types of mutations include: • Missense mutation: This type of mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene. • 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.

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AB Variant GM2-Gangliosidosis - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker


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