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Cystinuria in a patient with 19q12q13.1 deletion
Cystinuria is a genetic cause of kidney stones with a prevalence of 1 in 7000 births. So far, two genes have been described responsible for this disorder (SLC3A1 and SLC7A9). We report a patient with an SLC7A9 gene mutation located in 19q13.1 on one allele and with a 19q12q13 region deletion on the...
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| Publicado no: | CEN Case Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Japan
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5413741/ https://ncbi.nlm.nih.gov/pubmed/28509170 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-015-0193-y |
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