Topics

Mutation Class Assignment for Q493R
My daughter carries the delta508 and a rare Q493R. Can you please help me understand the mechanical defect of this protein caused by this sequence variation Q493R. My best guess from literature is that it is Class III (defective channel regulation). Thank you!
12.01.2012
Vertex-770 potentiator
Dear expert team, my daughters genotype is DF508 and R347P, now that the drug for G551D is going forth for approval because of its effects on the gene do you have any further data to support that this drug would also be effective on other class IV types like R347P as I know it has some effect on ...
01.12.2011
CFTRdele2, 3 (21kb)
Our baby has 8 months and was diagnosticated at 6 moths with CF. Now we have received the results from the genetic test:" Heterozygous carrier of a 21 kilobase deletion in the CFTR gene, which leads to a loss of exons 2 and 3 (CFTRdele2, 3 (21kb) A second mutation was not found." also, he was ...
26.06.2011
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?Hlor 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!
02.03.2011
Q493X
My daughter has just had Q493 identified as her second mutation. (She also has D508) Can you tell me anything about Q493 as it seems fairly rare?
17.12.2010
genetics question
My daughter was found at age three (she is now nine years old) to have the mutations F508 and 711 3a G. At time she has not experienced any significant lung involvement ( a few episodes of bronchitis) and she is pancreatic sufficient. I would like to ask what is the phenotype and the relative ...
03.08.2010
Genotype in CF
My two grandsons (one 18 months, the other 4 years) have CF with genotype F508del (egzon 10) and S466X (egzon 10) in CFTR gen. Can you tell me to which class of mutation belongs S466X and what are the prognosis for the children with this genotype.
03.08.2010
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