what are splice junction mutations?
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.
Is This Answer Correct ? | 2 Yes | 1 No |
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