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

Autor:	Sayonara Gonzalez, Maria Celia C Zuma, Fernanda Rolemberg G Riba, Maria E.S. Gomes, Juan C. Llerena, Natana Chaves Rabelo, Andre Luiz Mencalha
Rok vydání:	2021
Předmět:	Thanatophoric dysplasia Chemistry Hypochondroplasia General Medicine Fibroblast growth factor receptor 3 medicine.disease Molecular biology Rapid detection High Resolution Melt medicine In patient Achondroplasia Gene Genetics (clinical)
Zdroj:	Genetic Testing and Molecular Biomarkers. 25:674-682
ISSN:	1945-0257 1945-0265
DOI:	10.1089/gtmb.2020.0330
Popis:	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) ta...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::a9a23a5283524253e68710c0f1b5c697 https://doi.org/10.1089/gtmb.2020.0330 Zobrazit plný text záznamu