We describe a novel missense mutation (Aspartic acid to Asparagine, p.D419N (g.1371G>A, c.1255G>A) within exon 9 of SH3BP2 in a patient with cherubism, an autosomal dominant syndrome characterized by excessive osteoclastic bone resorption of the jaw. Two siblings and the father were carriers but lac
β¦ LIBER β¦
SH3BP2 is an activator of NFAT activity and osteoclastogenesis
β Scribed by Steven A. Lietman; Lihong Yin; Michael A. Levine
- Book ID
- 116296743
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 683 KB
- Volume
- 371
- Category
- Article
- ISSN
- 0006-291X
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