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Fenilcetonuria
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Fenilcetonuria

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  • 1. Fenilcetonuria Presenta.- Garduño Soto Myriam G. Carballo Tenorio César A.
  • 2. Fenilcetonuria
  • 3. Enfermedad autosómica recesiva Cromosoma 12 FAOH !2 q22-24.1 Gen FAOH.-13 exones 90 kb de longitud.
  • 4. 500 mutaciones.- 233 Sustitución de un a.a. 50 Deleciones. 4 mutaciones que provocan procesamiento erróneo de pre ARNm. 22 Sustituciones de un a.a. por un codón de parada. 5 Inserciones. 24 Polimorfismos.
  • 5. Terapia génica

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