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Type: Posts; User: Rima

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    Thank you Bill. We did a full/whole exome...

    Thank you Bill.
    We did a full/whole exome sequencing and they only found the heterogzyte F508del mutation.
    The CF sequencing for me revealed nothing, for my husband it revealed the same...
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    Advice about diagnosis please

    My 9 year old son is a carrier of F508del. We recently discovered this while trying to find out why he has had chronic diarrhea since the age of 2 years. He has never had any other symptoms of CF. ...
  3. Mutations linked to symptoms, linked to geographic origin?

    Dear Aboveallislove
    Thank you for your post. I'm new to this. I'm wondering if somewhere out there on the www is a list showing all the 2000 gene mutations linked to most probably symptoms and...
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    Sticky: Blog

    Dear Alyssa - what is the address to read your blog please?
    I'm wondering if somewhere out there on the www, there is a list of the 1400+ mutations and what the most common symptoms are that relate...
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