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Article

An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.

Molecular and cellular probes - 1 Apr 2008

Etlik Ozdal, Koksal Vedat, Tugba Arican-Baris Saniye, Baris Ibrahim

Abstract excerpt

Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. In more than 98% of cases, the disease is associated with a G to A or G to C substitution at nucleotide position 1138 (p.G380R) of the fibroblast growth factor receptor 3 (FGFR3) gene. We have developed a sensitive single tube tetra-primer PCR assay to detect both the c.1138G>A and c.1138G>C mutations and can...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17683901
DOI: 10.1016/j.mcp.2007.06.002

Genes

FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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