A Friends child
I suspect that a friends 1 yr old might have CF, he is ill every week, has had a cough since he was tiny, sicks up mucus and she tells me his stools are/were greasy. The only thing that buts doubt in my mindf is he is a very healthy weigh. I have hinted and even mentioned CF once but each time ...
vertex 770 and r347p
Dear team, my daugther FC has got mutation r347p (class iv). I red that vertex 770 could work on r117h (class iv too). Is the defect of conductance caused by r347p similat to the defect caused by r117h? Is it probable that vertex 770 can work also for r347p? In case it works for r117h, will it ...
Class II & III muations
I am fairly new to learning about CF but have accepted the baby has this and the mutations are Class II & III. The little one is now 6 months and 2 wks old and so far the health has been excellent, not even a sllight cold. The weight gain on average is about 0.64grms per week and his CF clinic are ...
I have been identified with dF508 as my first mutation, and Q493X. What does it mean? Im really confused with the numbers, the letters. I have no clue but i really would like to know as I have cf.
VX770 - Kalydeco
The child in question has G551 and F508 Delta mutations. For us VX770 provides great hope and just pray soon such a drug will be available to all other CF patients. I have read as much as possible on this drug but do not see information that I would wish to know. As a person with one faulty ...
Normal lifespan
My baby has deltaF508 and R1070W and is almost healthy (details are in a previous question). I found a study that shows the combination of the two mutations can lead to a normal life span. see below What kind of treatment and further ...
delta F508 and R1070W
My boy 3yo has been diagnosed with CF heterosigotus of delta F508 (7T-9T polimorfism) and R1070W (in exon 17b This mutation R1070W alters an arginine into a tryptophane on amino acid position 1070 of the resulting protein (p.Arg1070Trp). He never had pulmonary infections and is pancreatic ...
In what class is R1070W?
Classes of genes
What are the classes of CF gene mutations? Thank you
my brother has Cf F508del/E822X is this considered a mild form since he only has pancreatic insufficency and no other problems?
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