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what are splice junction mutations?
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Answer / swapna
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.
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