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Your search keyword '"Juan C. Llerena"' showing total 2 results
Start Over Author "Juan C. Llerena" Journal genetic testing and molecular biomarkers
2 results on '"Juan C. Llerena"'

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

Author

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

Subjects
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)
Abstract

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...

Published
2021

2. High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with

Author

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

Subjects
Male, Adolescent, DNA Mutational Analysis, Infant, Newborn, Limb Deformities, Congenital, Infant, Dwarfism, Bone and Bones, Achondroplasia, Child, Preschool, Mutation, Lordosis, Humans, Receptor, Fibroblast Growth Factor, Type 3, Female, Child
Published
2021

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