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[Mutation detection in SH3BP2 gene in a cherubism family]
1Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing 100081, China.
Objective:
To detect SH3BP2 gene mutation in a cherubism family.
Methods:
Peripheral blood samples were obtained from the family of cherubism. Genomic DNA was extracted. Polymerase chain reaction and direct sequencing were performed to identify the mutation.
Results:
A transition in exon 9 in SH3BP2 gene was detected in the family, which led to a missense mutation (Arg 415 Pro).
Conclusions:
Missense mutation in the SH3BP2 gene was responsible for the phenotypes of this Chinese cherubism family.
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