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Compound heterozygous mutation delF508/R347H
- Question
- Hello
My daughter is currently pancreatic sufficient since birth. I guess that when the patient is compound heterozygous (mutations deltaF508 and R347H) the mildest mutation gets over the other one
Will it remain so, or do studies / statistics and knowledge on the R347H mutation phenotype show that over time the pancreas may no longer assume its exocrine function? (I do not mean risk of diabetes).
Thank you in advance for your reply
Cordially
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- 20.06.2011
