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Question
what are splice junction mutations?
 Question Submitted By :: Jane
I also faced this Question!!     Rank Answer Posted By  
 
  Re: what are splice junction mutations?
Answer
# 1
G-to-C substitution at the 5 end of an intron in the muscle-
specific subunit gene. 

The mutation destroys the high-consensus GT sequence at the 
5 splice junction of the intron, which causes skipping of 
the preceding exon. 

This is the second molecular genetic defect identified in 
the myopathic variant of PhK deficiency.
 
Is This Answer Correct ?    0 Yes 0 No
Swapna
 

 
 
 
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