Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy-Reference-Cited by-同舟云学术

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy

Published:2014-10-02 Issue:11 Volume:59 Page:631-637
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Azzollini Jacopo,Rovina Davide,Gervasini Cristina,Parenti Ilaria,Fratoni Alessia,Cubellis Maria Vittoria,Cerri Amilcare,Pietrogrande Luca,Larizza Lidia

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201484.pdf

Reference31 articles.

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3. Al Aqeel A ., Al Sewairi W ., Edress B ., Gorlin R. J ., Desnick R. J . & Martignetti J. A . Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. Am. J. Med. Genet. 93, 11–18 (2000).

4. Zankl A ., Bonafé L ., Calcaterra V ., Di Rocco M . & Superti-Furga A . Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin. Genet. 67, 261–266 (2005).

5. Tuysuz B ., Mosig R ., Altun G ., Sancak S ., Glucksman M. J . & Martignetti J. A . A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects. Eur. J. Hum. Genet. 17, 565–572 (2009).

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