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- W3032050422 abstract "Objective To assess the clinical presentation and evaluate the fibroblast growth factor receptor(FGFR)3 gene mutation in patients suffering from achondroplasia.Methods Clinical and radiological features of achondroplasia were studied in 22 patients.The mutation of exon 10 in FGFR 3 gene was evaluated by polymerase chain reaction(PCR),single strand conformation polymorphism(SSCP)and restriction enzyme analysis in 7 patients.Results Sporadic mutation accounted for 86% of cases,all patients had megalencephaly at birth.All 7 patients tested were found to have G380R mutation(substitution of glycine with arginine at position 380).In contrast,G380R mutation was not detected in 2 patients with hypochondroplasia.Conclusions We found that G380R is the hot site of mutation in Chinese patients with achondroplasia.This finding provides further evidence that mutation of FGFR 3 is responsible for achondroplasia,irrespective of the ethnic background.Study of G380R mutation enables one to differentiate achondroplasia from hypochondroplasia.Key words: Achondroplasia; Fibroblast growth factor receptor 3 Gene,Mutation" @default.
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- W3032050422 date "1999-05-15" @default.
- W3032050422 modified "2023-09-25" @default.
- W3032050422 title "Mutation of Fibroblast Growth Factor Receptor 3 Gene and Achondroplasia" @default.
- W3032050422 doi "https://doi.org/10.3760/cma.j.issn.0253-3006.1999.03.010" @default.
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