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very rare mutation
- Question
- Hello
I have been diagnosed with CF at 5 months old, with a very rare mutation: R569 homozygote. I would like to have more information on this mutation. - Answer
- Hello,
I’ve contacted a geneticist after researches I’ve done in international mutation databases (www.genet.sickkids.on.ca/app and CFTR2), but we did not find any information regarding the R569 mutation. Contrairwise there is information on the Y569 mutation.
Could you please check with your CF center the mutation’s name? Please keep in touch, so we will be able to give you the information you need.
Best regards
Harriet Corvol
- 22.03.2012
