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Requestion: L1480p
- Question
- 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 symptoms so far. I have only recently been told, that I have CF. What do you know about this combination and its course? Thank you,
Yours sincerely, - Answer
- Hello,
also for your genotype (L1480p and TG12-T5) no scientific based statment can be made on the further course. If you really suffer from CF or not, can on this way (internet) of course not be clarified.
Altogether however, it can be said, that a typical CF would not be expected with your genotype, which is in conformance with the fact, that you have only been told recently, that you had CF.
Where the Italian man comes from, in whom the mutation L1480p has been found for the first time, is not said in the "Cystic Fibrosis Mutation Database". The laboratory, which performed the investigation, is located at the childrens hospital of the university hospital in Padua.
Yours sincerely,
Prof. Dr. Stuhrmann-Spangenberg
- 07.04.2011
