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Article

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

Clinical biochemistry - 1 Feb 2008

Hung Chia-Cheng, Lee Chien-Nan, Chang Chien-Hui, Jong Yuh-Jyh, Chen Chih-Ping, Hsieh Wu-Shiun, Su Yi-Ning, Lin Win-Li

Abstract excerpt

OBJECTIVES: 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. DESIGN AND METHODS: Exon 8 of the FGFR3 gene was analyzed in 40 patients with achondroplasia, as well as in 50...

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Source

Identifiers

PMID: 18199430
DOI: 10.1016/j.clinbiochem.2007.08.014

Genes

FGFR3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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