Recent content by Eimear

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    Please help me understand daughters mutations

    Bill, thanks for replying. Sorry for the delay in responding but I am new to these kind of forums and could not find where to reply - I'm learning fast :-) She is under the care of St Vincents CF unit in Dublin. While she had numerous chest infections through childhood, negative sweat tests...
  2. E

    Please help me understand daughters mutations

    Hi all, My 22yr old daughter has JUST been diagnosed with CF (No family history that we are aware of) - her mutations are c. 1521 1523 delCTT (p.Phe508del) c. 743+1G>C I do not know what these mean. I understand the first one is very rare and the second one is the most common, is this...
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