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A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects

Multicentric osteolysis with nodulosis and arthropathy (MONA, NAO (OMIM no. 605156)) is an autosomal recessive member of the ‘vanishing bone' syndromes and is notable for the extent of carpal and tarsal osteolysis and interphalangeal joint erosions, facial dysmorphia, and the presence of fibroc...

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保存先:
書誌詳細
主要な著者: Tuysuz, Beyhan, Mosig, Rebecca, Altun, Gürkan, Sancak, Selim, Glucksman, Marc J, Martignetti, John A
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2009
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2721823/
https://ncbi.nlm.nih.gov/pubmed/18985071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.204
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