Topics

Progression with R553x/IVS8-5T-TG12 mutations
Hello, My daughter has been diagnosed with atypical cystic fibrosis. What does that mean? Do you possibly have any experience with the mutations mentioned above? Many thanks C.M.
06.09.2010
R553x/IVS8-5T-TG12 mutations
Hello, my 5-year-old daughter was diagnosed with cystic fibrosis two weeks ago. Sweat test was negative, but the paediatrician ordered a gene test, which showed that she has the R553x/IVS8-5T-TG12 mutations. This is supposed to be an atypical cystic fibrosis. What does that mean, and how does ...
06.09.2010
CF in Asian countries
My child has lung problems that seem like CF. After screening for 34 mutations he seems to have one common CF mutation. Specific tests to look for other mutations and a nasal potential measurement are ongoing. Her father comes from Indonesia and I wonder whether Asian people carry other mutations ...
16.06.2010
Mutations, do I have CF now?
Dear expert team, could you please explain the following mutations to me? Result and interpretation: I have in the exon 21 of the CFTR gene the mutation p.Asn1303lle (c.3908A>T, traditional writing 4040A>T) heterozygously. The clinical meaning of this change is not clearly described. ...
21.04.2010
CF: Mutation of chloride channel?
Dear Sir or Madam, During a test in the subject „clinical pharmacy“ the following statement was made: “In CF there is a mutation of the chloride channel.” One should consider if this statement is correct. In my opinion it is wrong (...). What do you think? Best regards M. ...
16.04.2010
genetics
In my 5-month-old daughter CF was diagnosed and mutations 3849+10kbC>T/2143delT were detected. I can't find any information about the second mutation. So far my daughter has no symptoms. On the basis of these mutations, can one predict the course of the disease: mild or severe?
14.04.2010
DNA
How many DNA variants are examined when CF is suspected?
23.03.2010
Genetics
How can you explain that only one in four children has CF and not all children?
23.03.2010
recessive CF carrier and pancreatic problems
I am a possibly carrier of the CF-gene, the disease being present in my family. I know that mild forms of the disease may be present in CF-carriers, for example resulting in infertility (a disease also prevalent in my family). My question is the following: “Is it possible, being a carrier, not to ...
23.03.2010
genes
I have a few questions in the context of a scription I have to make on this subject and I hope you can help me. [The questions are integrated in the answer]
22.03.2010
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