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Involvement of the skull base and vault in chronic idiopathic hyperphosphatasia
Authors:L Mazzanti  P Ambrosetto  R Libri  R Pascarella  A Balsamo  G Tani
Affiliation:Laboratory of Genetics, The Second Clinical College,China Medical University, Shenyang, Liaoning 110003 P. R. China.
Abstract:OBJECTIVE: To evaluate whether mutation in the exon 10 of the fibroblast growth factor receptor 3(FGFR3) gene in common in Chinese patients with achondroplasia. METHODS: Genomic DNA from seven sporadic cases of achondroplasia was studied by using PCR-SSCP and restriction enzymes. RESULTS: All patients carried the same glycine-to-arginine mutation at codon 380(G380R) of the transmembrane domain of FGFR3. CONCLUSION: The results suggest that the G380R mutation of FGFR3 is also a frequent mutation causing achondroplasia in Chinese. Detecting FGFR 3 gene mutation with PCR-SSCP and restriction enzymes analysis is a convenient, rapid and reliable molecular diagnostic assay for prenatal and early diagnosis of achondroplasia.
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