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Diagnóstico genético de duas famílias com casos de Acidose tubularrenal distal por meio de Whole-Exome Sequencing

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Academic year: 2017

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Figura	
   1.	
  Figura	
  esquemática	
  da	
  H + 	
  ATPase	
  renal	
  com	
  suas	
  subunidades:	
  o	
  
Figura	
  2.	
  Mecanismos	
  de	
  transporte	
  tubular	
  no	
  néfron	
  distal:	
  (A)	
  secreção	
  de	
  
Table 1.  Chromosome Mapping of the Inherited Distal Renal Tubular Acidosis
Figura	
  3	
  -­‐	
  Pedigrees	
  das	
  famílias	
  do	
  estudo.	
  A)	
  Pedigree	
  da	
  família	
  1.	
  B)	
  Pedigree	
  da	
  
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