Advanced search
Start date

Profile of mutations and genetic polymorphisms in SLC3A1, SLC7A9 and PBX1 genes in families of patients with cystinuria

Grant number: 17/12742-2
Support type:Regular Research Grants
Duration: November 01, 2017 - October 31, 2019
Field of knowledge:Health Sciences - Medicine - Surgery
Principal researcher:Eduardo Mazzucchi
Grantee:Eduardo Mazzucchi
Home Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Assoc. researchers: Giovanni Scala Marchini ; Kátia Ramos Moreira Leite ; Miguel Srougi ; Nayara Izabel Viana ; Ruan César Aparecido Pimenta ; Sabrina Thalita dos Reis Faria


The objective of this study is to map genetic mutations of Brazilian families that have individuals with and without a diagnosis of cystinuria in order to internally validate mutations already described in the SLC73A1 and SLC7A9 genes and to look for new alterations in the same genes that may be associated to the development Cystinuria in our population. In addition, we will also sequence the PBX1 gene region to validate our previous findings and eventually describe new genetic changes that may be associated with cystinuria. (AU)

Articles published in Agência FAPESP Newsletter about the research grant:
Articles published in other media outlets (0 total):
More itemsLess items