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Achondroplasia Genetics
Investigators at National Taiwan University, Institute of Biomedical Engineering have published new data on achondroplasia genetics
March 30th, 2008
A new study, 'Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis,' is now available. "The fibroblast growth factor receptor 3 gene (FGFR3) plays a critical role in cartilage growth-plate differentiation and bony development. It has been shown that 97% of patients with achondroplasia have a G to A transition mutation at position 1138 (c.1138 G>A) of codon 380 of the FGFR3 gene," scientists in Taipei, Taiwan report. "Exon 8 of the FGFR3 gene was analyzed in 40 patients with achondroplasia, as well as in 50 control individuals for the presence of the c.1138G >A variant using melting curve...
Source: Pharma Investments, Ventures & Law Weekly (2008-03-30)
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