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==Hutchinson-Gilford Progeria Syndrome==
==Hutchinson-Gilford Progeria Syndrome==


:Links: [[Hutchinson-Gilford Progeria Syndrome]]
In more than 80% of cases the gene defect responsible for HGPS is a single spontaneous mutation in codon 608 of the LMNA gene, which encodes both lamin A and lamin C
 
* progerin is a mutant form of the nuclear architectural protein lamina A
 
:'''Links:''' [[Hutchinson-Gilford Progeria Syndrome]]
 
 
===Reference===
<pubmed>16277559 </pubmed>
 
[http://biology.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pbio.0030395 PLoS - The Cell Nucleus and Aging]
 
====Copyright====
 
This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.
 
 
 
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Latest revision as of 09:41, 15 March 2016

Hutchinson-Gilford Progeria Syndrome

In more than 80% of cases the gene defect responsible for HGPS is a single spontaneous mutation in codon 608 of the LMNA gene, which encodes both lamin A and lamin C

  • progerin is a mutant form of the nuclear architectural protein lamina A
Links: Hutchinson-Gilford Progeria Syndrome


Reference

<pubmed>16277559 </pubmed>

PLoS - The Cell Nucleus and Aging

Copyright

This is an open-access article distributed under the terms of the Creative Commons Public Domain declaration which stipulates that, once placed in the public domain, this work may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose.



Cite this page: Hill, M.A. (2024, June 17) Embryology Hutchinson-Gilford Progeria Syndrome.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Hutchinson-Gilford_Progeria_Syndrome.jpg

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