Topics

Intron 8 7t/7t Exon 13 D727y
Dear Sir or Madam, My 10-year-old daughter (CF) was tested in 2009 because she often had abdominal pain with diarrhea and also respiratory infections and bronchitis. Our pediatrician sent us to the CF outpatient department of the University Hospital Leipzig [Germany]. A sweat test was done ...
07.07.2015
Μutation combined with polymorphism
I am 14 weeks pregnant and I have a 4 year old son. During the genetic testing I was examined for 90% of the CF mutations and I was found to carry: c.1584+12T>C (rs193922502), along with the non pathological polymorphisms p.V470M (rs213950,c.1408G>A). My husband was detected to carry the ...
12.06.2015
polymporphisms and mutations
I would like to ask what is the difference between a polymorphism and a mutation. Can a polymorphism, or a mutation, cause CF on their own? Can a person have more than 2 polymorphisms or mutations? Thank you!
12.06.2015
Detection of CF at a later age
Recently, a mother with CF stated that she did not know she had CF before she was pregnant. I was glad for her, but, on the other hand, I got worried. I have a child with CF (pancreatic symptoms) and other children, that have not been tested (the doctor told me to have them tested for carrying a CF ...
12.06.2015
Heterozygote 621+1G>T and F508del
My daughter carries the mutations 621+1G>T and F508del. How serious is her condition?
12.06.2015
Phenotype associated to Genotype F508del / 3849+10 kbCT
Hello I am 5 months pregnant. My husband has got the F508del gene, and I'm carrying the 3849 + 10 kb CT. With 1/4 chance to transmit CF, I would like to know the clinical features. Best Regards
07.06.2015
Mutation G149R
Hello, I would like to know what is the class of the G149R mutation? Thank you for your answer
07.06.2015
R1166C and 2142delT
Hello, what is the clinical course of the illness with the above mentioned mutations? Are any new drugs for those mutations available?
06.06.2015
DF508 carrier
We proceeded with my husband to check the CFTR gene for CF mutations – 38 mutations, approximately 80% of the mutations. I was found to be a carrier of the DF508 mutation, whereas my husband does not carry any of the looked for mutations. There is a 1/500 chances to have a child with CF. Do you ...
06.05.2015
Genotype F508del/1717-1G>A and clinical trial
Hello, First thank you for your site and your answers! Here's what I read in the search results. "Currently, four Phase 3 studies are underway for VX-661 (100 mg once daily) in combination with ivacaftor (150 mg every 12 hours). One of those studies is in people with two copies of the F508del ...
06.04.2015
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