Cistinosis nefropática: caso clínico que ilustra diagnóstico molecular
Nephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, with a common variant that consists of a 57kb-deletion involving CTNS. Patients with NC that are treated with cysteamine improve their life quality and expectancy. We report a 12-month-old girl with a...
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| Autores principales: | , , |
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| Lenguaje: | Spanish / Castilian |
| Publicado: |
Sociedad Médica de Santiago
2018
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| Materias: | |
| Acceso en línea: | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000100111 |
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