Topics

Cftr Dele2,3
Which mutation class does Cftr dele 2,3 belong to?
29.10.2009
Mutations p.G542X p.R1162X -- Progression
Our daugther is two years old. She was diagnosed at eight weeks due to increased trypsin (newborn screening). So far she has been healthy. :-) Lung: pap smears always ok, no cough, no mucus obstruction. Pancreatic enzymes: ca. 100-150 mg of pancreatin for children daily. Does the mild ...
20.10.2009
Genetic screening
We have a five year old daughter with CF. 3 years ago my wife got pregnant but she had an abortion because the fetus was diagnosed with CF. Which procedure should we follow in order to have a child without CF?
19.10.2009
Mutation F508del/E822X
My daughter is six years old and has CF – mutation F508del/E822X. Is there any progress in the treatment of this specific mutation and does it matter if the manifestation of the symptoms of the said mutation is lighter?
29.12.2009
Genmutationcombi F508/R117H symptom free
My husband (age 46) has a very mild disease of CF (F508/IVS-5t) so that most of his life he has been without any symptoms. He only has absence of the vas deferens. Now they have found out that I carry the R117H mutation. Since we would like to have children we want to know about possible risks.  ...
13.10.2009
Cystic fibrosis death and IVF
Two years ago my sister died from CF. I would like to know if the fact that she was conceived through IVF mattered.
27.07.2009
Paternity
Hello, I want to ask if DNA test deny paternity and my daughter has CF, is it possible that these tests are not 100% sure and that testing person still can be a father of this child??
16.07.2009
Common mutations
Hello, in Slovakia 30 most common CF mutations are tested. My question is, if these 30 are also the most severe ones or if disease severity is not related with frequency. Thank You for an answer.
16.07.2009
Mutation
hello, I want to ask how severe is a mutations combination - compound heterozygout for F 508 del and 3849+10kbC>T and what course of the disease could we expect in future? these are mutations of my 1 year old daughter. Thank You for an answer.
30.07.2009
Screening for Cystic Fibrosis gene
How do I check if I am a carrier of the Cystic Fibrosis gene?
09.07.2009
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