Topics

cystic fibrosis
Hello. I have a boy that next month will be one year old. He took a sweat test and the result was 106 and then he took a genetic test at Genetic Lab in Bucharest (we live in Constanta). The result of the genetic test was: 1. the following mutations were detected: R553X-F508del, both heterozygous. ...
26.05.2011
cystic fibrosis-genetics
What does amplification of exon 3,4,10,11,19,20,21 mean on CFTR gene, no mutations were found. This analysis was sent to France (so does the laboratory say). They said that they will sent it in France for complete DNA sequencing for cystic fibrosis at LGNA (IGNA) in France, at Prof Jean Paul ...
26.05.2011
Sustainability of pancreatic sufficiency in case of compound heterozygous mutation F508del/R347P
Hello My daughter is currently pancreatic sufficient since birth. I guess that when the patient is compound heterozygous (mutations deltaF508 and R347P) the mildest mutation gets over the other one Will it remain so, or do studies / statistics and knowledge on the R347P mutation phenotype show ...
20.06.2011
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
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