𝔖 Bobbio Scriptorium
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Mutation analysis of the SH3BP2 gene in cherubism


Book ID
119336200
Publisher
Elsevier
Year
2012
Tongue
English
Weight
150 KB
Volume
114
Category
Article
ISSN
2212-4403

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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