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Recent content by CFDAD2018

  1. C

    Welcome Ambry Genetics

    STEVEN AMBRY Question on L183i also known as the c.547C>A - Cystic Fibrosis mutation Hello Steven Very recently my daughter who will be 8 years of age in June was diagnosed with Cystic Fibrosis at Boston Children Hospital based on the following 1. Sweat test result 62 mmol/L 2. Mild...
  2. C

    Question on L183i also known as the c.547C>A - Cystic Fibrosis mutation

    Hello All Very recently my daughter who will be 8 years of age in June was diagnosed with Cystic Fibrosis at Boston Children Hospital based on the following 1. Sweat test result 62 mmol/L 2. Mild respiratory symptoms Subsequent to this the doctor ordered a Genetic testing and the result came...
  3. C

    Question on L183i Cystic Fibrosis mutation

    Hello All Very recently my daughter who will be 8 years of age in June was diagnosed with Cystic Fibrosis at Boston Children Hospital based on the following 1. Sweat test result 62 mmol/L 2. Mild respiratory symptoms Subsequent to this the doctor ordered a Genetic testing and the...
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