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G27X and Q493X

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.
 
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.
 
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.
 
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.
 
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.
 
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