Whole‐exome sequencing as a diagnostic tool for distal renal tubular acidosis
Objective: Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis due to impaired renal acid excretion. The aim of this study was to demonstrate the genetic diagnosis of four children with dRTA through use of whole‐exome sequencing. Methods: Two unrelated families were selected;...
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| Principais autores: | , , , , , |
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| Formato: | Livro |
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Brazilian Society of Pediatrics,
2015-11-01T00:00:00Z.
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| Número de Chamada: |
A1234.567 |
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| Cópia 1 | Disponível |