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Dears... any info on p.Phe10781le (or p.Phe1078lle)

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ElenaFalcon

Guest
<P>DEAR ALL, my 7 month baby has been diagnosed with CF.  Borderline sweat tests, pancreatic sufficient.  The genetic testing revealed a single DF508 mutation, and the p.Phe10781le (or p.Phe1078lle  - sorry, the spelling is not clear).  The lab test indicated that this thing has NEVER been described before, it may be a missens mut and "likely to be clinically significant", which, in conjunction with the DF508 mutation, resulted in the diagnosis.  I have NOT been able to find any information on this.  </P>
<DIV>Can anyone point me in the direction of some resources for p.Phe10781le (or p.Phe1078lle)by itself, or in conjunction with single DF508?</DIV>
<DIV>Many thanks</DIV>
 
E

ElenaFalcon

Guest
<P>DEAR ALL, my7 month baby has been diagnosed with CF.Borderline sweat tests, pancreatic sufficient. The genetic testing revealed a single DF508 mutation, and the p.Phe10781le (or p.Phe1078lle - sorry, the spelling is not clear). The lab test indicated that this thing has NEVER been described before, it may bea missens mut and"likely to be clinically significant", which, in conjunction with the DF508 mutation, resulted in the diagnosis. I have NOTbeen able to find any information on this.</P>
<DIV>Can anyone point me in the direction of some resources for p.Phe10781le (or p.Phe1078lle)by itself, or in conjunction with single DF508?</DIV>
<DIV>Many thanks</DIV>
 
E

ElenaFalcon

Guest
<P>DEAR ALL, my7 month baby has been diagnosed with CF.Borderline sweat tests, pancreatic sufficient. The genetic testing revealed a single DF508 mutation, and the p.Phe10781le (or p.Phe1078lle - sorry, the spelling is not clear). The lab test indicated that this thing has NEVER been described before, it may bea missens mut and"likely to be clinically significant", which, in conjunction with the DF508 mutation, resulted in the diagnosis. I have NOTbeen able to find any information on this.</P>
<DIV><BR>Can anyone point me in the direction of some resources for p.Phe10781le (or p.Phe1078lle)by itself, or in conjunction with single DF508?<BR></DIV>
<DIV>Many thanks</DIV>
 
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