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Polymorphism in the PBX1 gene is related to cystinuria in Brazilian families

The aim of our study was to determine regions of loss of heterozygosity, copy number variation analysis, and single nucleotide polymorphisms (SNPs) in Brazilian patients with cystinuria. A linkage study was performed using DNA samples from six patients with cystinuria and six healthy individuals. Ge...

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Detalles Bibliográficos
Autores principales: Reis, Sabrina T., Leite, Katia R. M., Marchini, Giovanni S., Guimarães, Ronaldo M., Viana, Nayara I., Pimenta, Ruan C. A., Torricelli, Fabio C., Danilovic, Alexandre, Vicentini, Fábio Carvalho, Nahas, William Carlos, Srougi, Miguel, Mazzucchi, Eduardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349145/
https://www.ncbi.nlm.nih.gov/pubmed/30450686
http://dx.doi.org/10.1111/jcmm.13981