Hutchinson-Gilford Progeria Syndrome - A Bibliography and by Philip M. Parker

By Philip M. Parker

In March 2001, the nationwide Institutes of future health issued the next caution: ''The variety of sites supplying health-related assets grows each day. Many websites supply invaluable info, whereas others could have details that's unreliable or misleading.'' additionally, as a result of speedy raise in Internet-based details, many hours might be wasted looking out, choosing, and printing. on the grounds that simply the smallest fraction of knowledge facing Hutchinson-Gilford progeria syndrome is listed in se's, reminiscent of or others, a non-systematic method of net examine might be not just time eating, but additionally incomplete. This e-book used to be created for doctors, scholars, and participants of most people who are looking to behavior scientific examine utilizing the main complex instruments on hand and spending the smallest amount of time doing so.

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Source: The Journal of Pediatrics. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=4552697&query_hl=16&itool=pubmed_docsum • The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers. Author(s): Delbarre E, Tramier M, Coppey-Moisan M, Gaillard C, Courvalin JC, Buendia B. Source: Human Molecular Genetics. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=16481358&query_hl=16&itool=pubmed_docsum • Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.

Because only egg cells contribute mitochondria to the developing embryo, only females can pass on mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children. Leber hereditary optic neuropathy (LHON) Help Me Understand Genetics 53 Many other disorders are caused by a combination of the effects of multiple genes or by interactions between genes and the environment.

Small deletions may remove one or a few base pairs within a gene, while larger deletions can remove an entire gene or several neighboring genes. The deleted DNA may alter the function of the resulting protein(s). • Duplication: A duplication consists of a piece of DNA that is abnormally copied one or more times. This type of mutation may alter the function of the resulting protein. • Frameshift mutation: This type of mutation occurs when the addition or loss of DNA bases changes a gene’s reading frame.

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