Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis

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. Ex...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Clinical biochemistry 2008-02, Vol.41 (3), p.162-166
Hauptverfasser:	Hung, Chia-Cheng, Lee, Chien-Nan, Chang, Chien-Hui, Jong, Yuh-Jyh, Chen, Chih-Ping, Hsieh, Wu-Shiun, Su, Yi-Ning, Lin, Win-Li
Format:	Artikel
Sprache:	eng
Schlagworte:	Achondroplasia Achondroplasia - genetics Cartilage - growth & development Chromatography, High Pressure Liquid - methods DNA Mutational Analysis FGFR3 gene Fibroblast Growth Factor 3 - genetics Heteroduplex Analysis - methods Humans Melting curve analysis Nucleic Acid Denaturation - genetics Point Mutation - genetics Polymorphism, Single Nucleotide - genetics Receptor, Fibroblast Growth Factor, Type 3 - genetics Sensitivity and Specificity Taiwan Transition Temperature
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!