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FYI - Nonsense mutation list

K

kitomd21

New member
Dear Mrs. S.,

Thank you for your reply.

Please find below a list of the known nonsense mutations in CF:

E60X
Q890X
R1162X
W1282X
Y1092X
R75X
3849+10kbC>T
W1089X
S1196X
G542X
G330X
R553X
Q493X
Y122X
R1158X
S1225X
K710X
W846X

I hope this information is useful. Please feel free to contact us again should you have additional questions.

Sincerely,

Alissa M. Coslit
Patient and Professional Advocacy
PTC Therapeutics
100 Corporate Court
South Plainfield, NJ 07080
Office <img src="">908)912-9221
Fax: 908 222-7231
acoslit@ptcbio.com
 
K

kitomd21

New member
Dear Mrs. S.,

Thank you for your reply.

Please find below a list of the known nonsense mutations in CF:

E60X
Q890X
R1162X
W1282X
Y1092X
R75X
3849+10kbC>T
W1089X
S1196X
G542X
G330X
R553X
Q493X
Y122X
R1158X
S1225X
K710X
W846X

I hope this information is useful. Please feel free to contact us again should you have additional questions.

Sincerely,

Alissa M. Coslit
Patient and Professional Advocacy
PTC Therapeutics
100 Corporate Court
South Plainfield, NJ 07080
Office <img src="">908)912-9221
Fax: 908 222-7231
acoslit@ptcbio.com
 
K

kitomd21

New member
Dear Mrs. S.,

Thank you for your reply.

Please find below a list of the known nonsense mutations in CF:

E60X
Q890X
R1162X
W1282X
Y1092X
R75X
3849+10kbC>T
W1089X
S1196X
G542X
G330X
R553X
Q493X
Y122X
R1158X
S1225X
K710X
W846X

I hope this information is useful. Please feel free to contact us again should you have additional questions.

Sincerely,

Alissa M. Coslit
Patient and Professional Advocacy
PTC Therapeutics
100 Corporate Court
South Plainfield, NJ 07080
Office <img src="">908)912-9221
Fax: 908 222-7231
acoslit@ptcbio.com
 
K

kitomd21

New member
Dear Mrs. S.,

Thank you for your reply.

Please find below a list of the known nonsense mutations in CF:

E60X
Q890X
R1162X
W1282X
Y1092X
R75X
3849+10kbC>T
W1089X
S1196X
G542X
G330X
R553X
Q493X
Y122X
R1158X
S1225X
K710X
W846X

I hope this information is useful. Please feel free to contact us again should you have additional questions.

Sincerely,

Alissa M. Coslit
Patient and Professional Advocacy
PTC Therapeutics
100 Corporate Court
South Plainfield, NJ 07080
Office <img src="">908)912-9221
Fax: 908 222-7231
acoslit@ptcbio.com
 
K

kitomd21

New member
Dear Mrs. S.,
<br />
<br />Thank you for your reply.
<br />
<br />Please find below a list of the known nonsense mutations in CF:
<br />
<br />E60X
<br />Q890X
<br />R1162X
<br />W1282X
<br />Y1092X
<br />R75X
<br />3849+10kbC>T
<br />W1089X
<br />S1196X
<br />G542X
<br />G330X
<br />R553X
<br />Q493X
<br />Y122X
<br />R1158X
<br />S1225X
<br />K710X
<br />W846X
<br />
<br />I hope this information is useful. Please feel free to contact us again should you have additional questions.
<br />
<br />Sincerely,
<br />
<br />Alissa M. Coslit
<br />Patient and Professional Advocacy
<br />PTC Therapeutics
<br />100 Corporate Court
<br />South Plainfield, NJ 07080
<br />Office <img src="">908)912-9221
<br />Fax: 908 222-7231
<br />acoslit@ptcbio.com
 
F

folione

New member
Anything ending in "X" is nonsense from the way I've heard it; not sure if there's a rule of thumb that captures that one without an "x" on PTC's list. My son has Q220x and dF508 and has classic CF. The ambry test is the one I think he had that turned up the x mutation.
 
F

folione

New member
Anything ending in "X" is nonsense from the way I've heard it; not sure if there's a rule of thumb that captures that one without an "x" on PTC's list. My son has Q220x and dF508 and has classic CF. The ambry test is the one I think he had that turned up the x mutation.
 
F

folione

New member
Anything ending in "X" is nonsense from the way I've heard it; not sure if there's a rule of thumb that captures that one without an "x" on PTC's list. My son has Q220x and dF508 and has classic CF. The ambry test is the one I think he had that turned up the x mutation.
 
F

folione

New member
Anything ending in "X" is nonsense from the way I've heard it; not sure if there's a rule of thumb that captures that one without an "x" on PTC's list. My son has Q220x and dF508 and has classic CF. The ambry test is the one I think he had that turned up the x mutation.
 
F

folione

New member
Anything ending in "X" is nonsense from the way I've heard it; not sure if there's a rule of thumb that captures that one without an "x" on PTC's list. My son has Q220x and dF508 and has classic CF. The ambry test is the one I think he had that turned up the x mutation.
 
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