Topics

cf
my brother has Cf F508del/E822X is this considered a mild form since he only has pancreatic insufficency and no other problems?
29.02.2012
Classes of genes
What are the classes of CF gene mutations? Thank you
23.01.2012
R1070W
In what class is R1070W?
23.01.2012
Possible Pregnancy, CF and IVF
We have tried IVF and we are at a very early stage. Unfortunately I did not manage to do any testing for CF. I am now gathering information about it. I would like to know (if we get positive results about the pregnancy) when and how I can find out if the embryo is a carrier and if there is any ...
14.02.2012
Carrier couple and pregancy_2
We are a couple, both of us carriers of CF mutations (Leu732x & DF508). The results of the amniocentesis (at 17 weeks of gestation) showed that the embryo will have CF. How grave is the combination of these two mutations for the life expectancy of the embryo and the course of the disease?
29.02.2012
Carrier couple and pregancy_1
I am a carrier of the Leu732x CF mutation and my husband carries the DF508 one after being tested for 95% of mutations. The amniocentesis was positive for CF in the embryo and the pregnancy (normal conception) was terminated. All test were done at Horemion Laboratory. How severe would have been the ...
29.02.2012
Mutation Class Assignment for Q493R
My daughter carries the delta508 and a rare Q493R. Can you please help me understand the mechanical defect of this protein caused by this sequence variation Q493R. My best guess from literature is that it is Class III (defective channel regulation). Thank you!
16.01.2012
N1303K mutation
Hello, I have a question. Although I am aware that the course of illness is different for each mutation, I would like to know how the course will be roughly with the N1303K mutation. My daughter is three years old and has not had any lung problems so far, except that she gets exhausted quickly. ...
16.01.2012
Cf heterozygote carrier
After CVS testing the baby is heterozygote carrier of CF. Will it be born ok, or are there any other testings to be done?
20.01.2012
DeltaF508 carrier
Hello, I have a son with CF and am a DeltaF508 carrier. I have severe mucus obstruction problems – both in the upper respiratory tract and gynaecological – with constant infections and frequent flatulence/stomach ache. I was already diagnosed with “hypersensitive brochial system” with ...
16.01.2012
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