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Identifying a point mutation in the SH3BP2 gene in cherubism

✍ Scribed by Sakaki, H.; Furudate, K.; Sato, H.; Itoh, R.; Kobayashi, W.; Kimura, H.


Book ID
126895715
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
47 KB
Volume
72
Category
Article
ISSN
1531-5053

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Identification of a novel mutation of SH
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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