Topics

Genetics (2143delT/delF508)
Hello, in my son F508 del and 2143 delT mutations were detected. As far as the first mutation is concerned, one can find some information about it in the internet. The second mutation is not known to me. Please, provide me with any information about this one. I know, that few people have this ...
09.05.2011
Splicing mutation
Hello Are they any studies underway for splicing mutations? If yes, what are they? Thank you for your answer.
05.05.2011
Requestion on „F508del mutation – other mutations possible?”
My question is related to the question „F508del mutation – other mutations possible?” (http://ecorn-cf.eu/index.php?id=65&L=0&tx_expertadvice_pi1[showitem]=916&tx_expertadvice_pi1[search]=) from the 14.06.2010, for sure this is some time ago, from that answer I understood that a genetic ...
11.04.2011
Mutations
One year ago my 20 months old daughter had 2 sweat tests over 200! The screening test was negative at birth. She is considered and treated as CF but has no identified mutation so far ! Nevertheless, she is very symptomatic, has been colonized with Pseudomonas and is pancreatic insufficient. Is ...
07.04.2011
F508del homozygous
Hello, I have a question: my daughter has CF with the mutation F508del homozygous. Does anybody know what this says about the course of the disease?
07.04.2011
Requestion: L1480p
Hello, I have asked what is known about the mutation L1480p. Now my question is, can one find out from which region this 40-year-old Italian man comes from? We are also Italians.... I as mother have also CF with the mutations L1480p and TG12-T5 allele. I am 32 years old and did not have any ...
07.04.2011
Mutations delF508 and L1480p
Hello, my daughter has CF with the mutations delF508 and L1480p. Nobody knows however, which course of the disease will bring the mutation L1480p. Do you know anything about this mutation? Yours sincerely
07.04.2011
Mutation
Hello, Is the 1717-1G> A mutation (which is part of class I mutations) associated with premature discontinuation of protein production secondary to a stop codon? In this case, could it be accessible to PTC124 (Ataluren)? Many thanks for your reply. Yours.
29.03.2011
Mutation F508del
Good evening, I am 38 years old and 6 months pregnant in my second child. After the amniocentesis the fetus was found to carry at one gene (heterozygote) the F508del mutation. Our first child – 5 years old – does not have any symptoms. Is there any danger for the fetus? Thank you,  ...
28.03.2011
NANA
Dear all, My son is 11years old.CF del F 508/525del T. (on exon 4). What is the prognose for this combination of genas? Chloride in sweat is 65.We leave in small country Montenegro on the Balkan and we don't have big medical centar for CF,so your answer will help us a lot...Thank you!
31.03.2011
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