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  1. J

    experiences with two atypical/mild/nonclassic mutations?

    our son was recently diagnosed with CF with two atypical (or whatever you want to call them) mutations, after a negative sweat test. he's generally in great health, though x-ray showed something going on in the lungs and he cultured haemophilus influenzae, so we're doing pulmozyme, albuterol and...
  2. J

    experiences with two atypical/mild/nonclassic mutations?

    our son was recently diagnosed with CF with two atypical (or whatever you want to call them) mutations, after a negative sweat test. he's generally in great health, though x-ray showed something going on in the lungs and he cultured haemophilus influenzae, so we're doing pulmozyme, albuteroland...
  3. J

    experiences with two atypical/mild/nonclassic mutations?

    our son was recently diagnosed with CF with two atypical (or whatever you want to call them) mutations, after a negative sweat test. he's generally in great health, though x-ray showed something going on in the lungs and he cultured haemophilus influenzae, so we're doing pulmozyme, albuteroland...
  4. J

    help with understanding mutations

    thanks mommafirst, and, of course, i'm sorry. yes, we know we need to not be assuming anything at this point. but we'd like to at least find out as much as we can, just because it's frustrating and scary to not be able to do so. seems like we're 90% sure son's first gene is class V, but the...
  5. J

    help with understanding mutations

    thanks mommafirst, and, of course, i'm sorry. yes, we know we need to not be assuming anything at this point. but we'd like to at least find out as much as we can, just because it's frustrating and scary to not be able to do so. seems like we're 90% sure son's first gene is class V, but the...
  6. J

    help with understanding mutations

    <p>thanks mommafirst, and, of course, i'm sorry. yes, we know we need to not be assuming anything at this point. but we'd like to at least find out as much as we can, just because it's frustrating and scary to not be able to do so. seems like we're 90% sure son's first gene is class V, but the...
  7. J

    help with understanding mutations

    it's paired in that one case with a delta f508. our son's other mutation is pretty clearly "mild" (you know, as far as that goes) based on a larger number of cases... our understanding is that there's (usually) a difference when two nonclassic mutations are paired together, versus a mild and...
  8. J

    help with understanding mutations

    it's paired in that one case with a delta f508. our son's other mutation is pretty clearly "mild" (you know, as far as that goes) based on a larger number of cases... our understanding is that there's (usually) a difference when two nonclassic mutations are paired together, versus a mild and...
  9. J

    help with understanding mutations

    it's paired in that one case with a delta f508. our son's other mutation is pretty clearly "mild" (you know, as far as that goes) based on a larger number of cases... our understanding is that there's (usually) a difference when two nonclassic mutations are paired together, versus a mild and...
  10. J

    Welcome Ambry Genetics

    Steve, following up on my post above: Our second mutation apparently (may?) go by three different names... C812T>G and 741T>G as well as 680T>G... Is this possible? The first two are linked as the same names for the same mutation in a variety of places, but the third one doesn't appear to be...
  11. J

    help with understanding mutations

    If anyone has any experience with a mutation called C812T>G, we're hoping to find out more information. Apparently it also goes by 741T>G AND 680T>G (?). Though we don't know it's possible for it to have three names. So I guess, separately, does that make any sense to anyone? We've tried finding...
  12. J

    help with understanding mutations

    If anyone has any experience with a mutation called C812T>G, we're hoping to find out more information. Apparently it also goes by 741T>G AND 680T>G (?). Though we don't know it's possible for it to have three names. So I guess, separately, does that make any sense to anyone? We've tried finding...
  13. J

    help with understanding mutations

    <p>If anyone has any experience with a mutation called C812T>G, we're hoping to find out more information. <br /><br />Apparently it also goes by 741T>G AND 680T>G (?). Though we don't know it's possible for it to have three names. So I guess, separately, does that make any sense to anyone? <br...
  14. J

    Welcome Ambry Genetics

    Hi- Our son was recently diagnosed with CF and we're having a challenging time getting an idea of what the range of symptoms/presentations/ages of onset may be with his particular mutations. They are: F1052V, which seems to be a mixed bag, mostly problematic when paired with a severe gene; and...
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