Download AB Variant GM2-Gangliosidosis - A Bibliography and by Philip M. Parker PDF

By Philip M. Parker

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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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Author(s): Rattazzi MC, McCullough RA, Downing CJ, Kung MP. Source: Pediatric Research. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=573435&query_hl=64&itool=pubmed_docsum 22 AB Variant GM2-Gangliosidosis • Towards enzyme replacement in GM2 gangliosidosis: organ disposition and induced central nervous system uptake of human beta-hexosaminidase in the cat. Author(s): Rattazzi MC, Lanse SB, McCullough RA, Nester JA, Jacobs EA. Source: Birth Defects Orig Artic Ser. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=6778524&query_hl=64&itool=pubmed_docsum • Treatment of GM2 gangliosidosis: past experiences, implications, and future prospects.

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. DNA segments with an abnormal number of these repeats are unstable and prone to errors during cell division. The number of repeats can change as the gene is passed from parent to child. If the number of repeats increases, it is known as a trinucleotide repeat expansion.

Other genetic factors can also influence how a disorder is inherited. If a Genetic Disorder Runs in My Family, What Are the Chances That My Children Will Have the Condition? When a genetic disorder is diagnosed in a family, family members often want to know the likelihood that they or their children will develop the condition. This can be difficult to predict in some cases because many factors influence a person’s chances of developing a genetic condition. One important factor is how the condition is inherited.

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