Cystic Fibrosis Forum (EXP)

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  1. C

    Question about Mutation Classes

    I've been reading a lot lately about the different CF mutation classes and what they mean. My question is, where can I find out exactly what class my son's 2nd, more rare mutation is in? Our clinic doesn't have a geneticist, and his doctor doesn't give me direct answers.
  2. C

    Searching For Mutation: c.2789+2_+3insA

    Ever since my son was diagnosed a year ago, I've been trying to find someone else with his second mutation, but with no luck. While I understand that you can't determine the severity of the disease by the mutation, I'm simply trying to see just how rare the mutation is. Also, I'd like to...
  3. C

    Inheriting 2 defective genes from one parent?

    My son who is now 11 weeks had a 'borderline' result from his newborn screening. The followup sweat test was also borderline. I knew I was a carrier (found out while pregnant that I carried the delta f508.) But my husbands screening came back normal, so I was told while I was pregnant there...
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