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High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3-Related Skeletal Dysplasias.

Genetic testing and molecular biomarkers - 1 Oct 2021

Riba Fernanda Rolemberg G, Gomes Maria E S, Rabelo Natana Chaves, Zuma Maria Celia C, Llerena Juan C, Mencalha André Luiz, Gonzalez Sayonara

Abstract excerpt

Background: Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are related to skeletal dysplasias (SDs): acondroplasia (ACH), hypochodroplasia (HCH) and type I (TDI) and II (TDII) tanatophoric dysplasias. This study was designed to standardize and implement a high-resolution melting (HRM) technique to identify mutations in patients with these phenotypes. Methods: Initially, FGFR3 gene segments from...

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PMID: 34672771
DOI: 10.1089/gtmb.2020.0330

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