Tylersmom28
New member
Does anyone have either of these mutations or know anything about them?
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G27X and Q493X
- Thread starter Tylersmom28
- Start date
Tylersmom28
New member
Does anyone have either of these mutations or know anything about them?
Tylersmom28
New member
Does anyone have either of these mutations or know anything about them?
Tylersmom28
New member
Does anyone have either of these mutations or know anything about them?
Tylersmom28
New member
Does anyone have either of these mutations or know anything about them?
M
Mommafirst
Guest
I don't, but you might want to post in the Ambry thread at the top of the families board. Steve answers those, he works for Ambry and is a very knowledgeable geneticist who would be the best to answer your question.
The only thing I know is that when there is an X at the end, it means its a Stop mutation -- I believe those are class 1 mutations. Stop mutations are being targeted in the drug Ataluren (used to be PTC124) to get to the root of why they cause the CFTR not to work and to fix the problem.
You should get info from someone more knowdedgeable than I am. : ) But this might give you a start.
The only thing I know is that when there is an X at the end, it means its a Stop mutation -- I believe those are class 1 mutations. Stop mutations are being targeted in the drug Ataluren (used to be PTC124) to get to the root of why they cause the CFTR not to work and to fix the problem.
You should get info from someone more knowdedgeable than I am. : ) But this might give you a start.
M
Mommafirst
Guest
I don't, but you might want to post in the Ambry thread at the top of the families board. Steve answers those, he works for Ambry and is a very knowledgeable geneticist who would be the best to answer your question.
The only thing I know is that when there is an X at the end, it means its a Stop mutation -- I believe those are class 1 mutations. Stop mutations are being targeted in the drug Ataluren (used to be PTC124) to get to the root of why they cause the CFTR not to work and to fix the problem.
You should get info from someone more knowdedgeable than I am. : ) But this might give you a start.
The only thing I know is that when there is an X at the end, it means its a Stop mutation -- I believe those are class 1 mutations. Stop mutations are being targeted in the drug Ataluren (used to be PTC124) to get to the root of why they cause the CFTR not to work and to fix the problem.
You should get info from someone more knowdedgeable than I am. : ) But this might give you a start.
M
Mommafirst
Guest
I don't, but you might want to post in the Ambry thread at the top of the families board. Steve answers those, he works for Ambry and is a very knowledgeable geneticist who would be the best to answer your question.
The only thing I know is that when there is an X at the end, it means its a Stop mutation -- I believe those are class 1 mutations. Stop mutations are being targeted in the drug Ataluren (used to be PTC124) to get to the root of why they cause the CFTR not to work and to fix the problem.
You should get info from someone more knowdedgeable than I am. : ) But this might give you a start.
The only thing I know is that when there is an X at the end, it means its a Stop mutation -- I believe those are class 1 mutations. Stop mutations are being targeted in the drug Ataluren (used to be PTC124) to get to the root of why they cause the CFTR not to work and to fix the problem.
You should get info from someone more knowdedgeable than I am. : ) But this might give you a start.
M
Mommafirst
Guest
I don't, but you might want to post in the Ambry thread at the top of the families board. Steve answers those, he works for Ambry and is a very knowledgeable geneticist who would be the best to answer your question.
The only thing I know is that when there is an X at the end, it means its a Stop mutation -- I believe those are class 1 mutations. Stop mutations are being targeted in the drug Ataluren (used to be PTC124) to get to the root of why they cause the CFTR not to work and to fix the problem.
You should get info from someone more knowdedgeable than I am. : ) But this might give you a start.
The only thing I know is that when there is an X at the end, it means its a Stop mutation -- I believe those are class 1 mutations. Stop mutations are being targeted in the drug Ataluren (used to be PTC124) to get to the root of why they cause the CFTR not to work and to fix the problem.
You should get info from someone more knowdedgeable than I am. : ) But this might give you a start.
M
Mommafirst
Guest
I don't, but you might want to post in the Ambry thread at the top of the families board. Steve answers those, he works for Ambry and is a very knowledgeable geneticist who would be the best to answer your question.
<br />
<br />The only thing I know is that when there is an X at the end, it means its a Stop mutation -- I believe those are class 1 mutations. Stop mutations are being targeted in the drug Ataluren (used to be PTC124) to get to the root of why they cause the CFTR not to work and to fix the problem.
<br />
<br />You should get info from someone more knowdedgeable than I am. : ) But this might give you a start.
<br />
<br />The only thing I know is that when there is an X at the end, it means its a Stop mutation -- I believe those are class 1 mutations. Stop mutations are being targeted in the drug Ataluren (used to be PTC124) to get to the root of why they cause the CFTR not to work and to fix the problem.
<br />
<br />You should get info from someone more knowdedgeable than I am. : ) But this might give you a start.
Tylersmom28
New member
Thanx!
Tylersmom28
New member
Thanx!
Tylersmom28
New member
Thanx!
Tylersmom28
New member
Thanx!
Tylersmom28
New member
Thanx!