Please use this identifier to cite or link to this item:
http://repositorio.unicamp.br/jspui/handle/REPOSIP/353624
Type: | Artigo |
Title: | Novel and recurrent mutations in the FGFR3 gene and double heterozygosity cases in a cohort of brazilian patients with skeletal dysplasia |
Author: | Gomes, M.E.S. Kanazawa, T.Y. Riba, F.R. Pereira, N.G. Zuma, M.C.C. Rabelo, N.C. Sanseverino, M.T. Horovitz, D.D.G. Llerena Junior, J.C. Cavalcanti, D.P. Gonzalez S. |
Abstract: | Mutations in the fibroblast growth factor receptor 3 gene (FGFR3) cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TDI/TDII). In this study, we performed a genetic study of 123 Brazilian patients with these |
Subject: | Acondroplasia Achondroplasia |
Country: | Suíça |
Editor: | Karger |
Rights: | Fechado |
Identifier DOI: | 10.1159/000486697 |
Address: | https://www.karger.com/Article/FullText/486697 |
Date Issue: | 2018 |
Appears in Collections: | FCM - Artigos e Outros Documentos |
Files in This Item:
File | Size | Format | |
---|---|---|---|
29593476.pdf | 407.22 kB | Adobe PDF | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.