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. 2006 Jun;41(6):368-71.

[Mutation detection in SH3BP2 gene in a cherubism family]

[Article in Chinese]
Cui-ying Li  1 , Shi-feng Yu
Affiliations
  • PMID: 16836910

[Mutation detection in SH3BP2 gene in a cherubism family]

[Article in Chinese]
Cui-ying Li et al. Zhonghua Kou Qiang Yi Xue Za Zhi. 2006 Jun.

Abstract

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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