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Keywords
- ABPA_Aspergillus
- accompanying diseases
- air-improving devices
- allergy
- animals_pets
- antibiotic therapy
- asthma
- complementary medicine
- covid-19
- diabetes
- diagnostics
- drugs side effects
- drugs under development_genetic therapy
- ENT
- general aspects
- genetics
- health care
- hepatobiliary disease
- hygiene
- i.v.-lines
- inhalation
- lung
- microbiology
- miscellaneous
- modulator therapy
- MRSA
- nutrition and GI problems
- oxygen supplementation_therapy
- physiotherapy
- Pseudomonas aeruginosa
- psychosocial
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- reproduction
- research
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- swine flu_novel influenza
- transplantation
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Topics
- Gene mutation 2896insAG
- Hello, I have a question, namely my friend has the mutation 2896insAG and we do not really know what to do with this mutation. Is this a stop mutation? Do stop mutations always end with X? If yes, the first question is already answered. Can you tell me something about this mutation? The other ...
- 22.12.2014
- L558S
- Hello, Could you give me some information about this mutation? Is it frequent worldwide? Do the homozygotes have a particular phenotype? Thank you
- 17.12.2014
- Mycobacteria
- Hello, My 6 year old son just had a sputum culture that shows the presence of mycobacteria. I wished to have more information on this germ and whether my son will have this germ all the life as I gather that it is resistant to antibiotics. Also I'd like to know where is the research regarding ...
- 03.12.2014
- L227R mutation
- Hello, From a strict physiological point of view, what is the impact of the substitution of Leucine at position 227 to Arginine? Can the different physicochemical properties of those aminoacids explain the dysfunction of the CFTR protein? There is very little documentation about it. Could you ...
- 03.12.2014
- c.4251delA
- Hello, I previously posted a message to know the impact of the 4472delT mutation. Actually I got confused because my son is a carrier of this mutation on the SAMD gene, not on the CFTR gene for that he is c.4251delA homozygous. Please remove my previous question please. What would the impact of ...
- 03.12.2014
- Mutation 1717 1G-A homozygous
- Dear expert team, our son has the above mutation. Are there possibly any insights in the context of a study by Vertex or others? Which class does this mutation belong to definitively (since I’ve seen it assigned to various classes), and if it is a splice mutation, what does that mean? Your ...
- 25.11.2014
- Staphylococcus aureus
- Hello, We got to know one month after the birth of our now 3-months-old daughter that she was suffering from CF. She carries the DF508 and G3272-26A mutations. She is followed every month at the CF Center. She has every day respiratory physiotherapy and is until now pancreatic sufficient. My ...
- 04.11.2014
- Desire to have children
- Dear Sir, dear Madam, I am an 18-year-old woman. My boyfriend is almost 18 and has CF. He takes medication but has little to no complaints. We are professionally and financially both doing well and we would like to have a baby. I have two questions: I know that the chance to get pregnant ...
- 04.11.2014
- CF test for only one parent
- Hello, I would like to know the impact on my 5-year and 6-months-old daughter’s health who was F508del homozygous diagnosed in 2011. Regarding that only her mother has made genetic testing (her father did not wish to do), could you give me some information about it and whether it will affect ...
- 04.11.2014
- Mutation delta f508/2789+5g a
- My daughter has an atypical form of CF with the mutations delta F508 / 2789+5G>A. Do you have any experience with the mutation? What does atypical mean?
- 03.11.2014