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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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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 |
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