原创力文档segregation of a m404v mutation of the p62sequestosome 1 (p62sqstm1) gene with polyostotic pagets disease of bone in an italian family隔离的m404v p62sequestosome 1(p62sqstm1)基因的突变与polyostotic佩吉特氏病骨的一个意大利家庭.pdfVIP
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segregation of a m404v mutation of the p62sequestosome 1 (p62sqstm1) gene with polyostotic pagets disease of bone in an italian family隔离的m404v p62sequestosome 1(p62sqstm1)基因的突变与polyostotic佩吉特氏病骨的一个意大利家庭
Available online /content/7/6/R1289
Vol 7 No 6 Open Access
Research article
Segregation of a M404V mutation of the p62/sequestosome 1
(p62/SQSTM1) gene with polyostotic Pagets disease of bone in
an Italian family
1 2 1 1 1
Alberto Falchetti , Marco Di Stefano , Francesca Marini , Francesca Del Monte , Alessia Gozzini ,
1 1,3 1 1 2
Laura Masi , Annalisa Tanini , Antonietta Amedei , Annamaria Carossino , Giancarlo Isaia and
Maria Luisa Brandi1,3
1Department of Internal Medicine, University of Florence, Florence, Italy
2Department of Internal Medicine, University of Turin, Turin, Italy
3DeGene Spin-off, University of Florence, Florence, Italy
Corresponding author: Maria Luisa Brandi, m.brandi@dmi.unifi.it
Received: 30 Mar 2005 Revisions requested: 3 May 2005 Revisions received: 1 Aug 2005 Accepted: 24 Aug 2005 Published: 15 Sep 2005
Arthritis Research Therapy 2005, 7:R1289-R1295 (DOI 10.1186/ar1828)
This article is online at: /content/7/6/R1289
© 2005 Falchetti et al.; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (/licenses/by/
2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Mutations of the p62/Sequestosome 1 gene (p62/SQSTM1) except one patient with a single X-ray-assessed skeletal
account for both sporadic and familial forms of
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