Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.
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DOI: 10.1093/hmg/ddac148
Abstract: All mutations in exon 9 of the Cullin3 gene associated with pseudohypoaldosteronism type II (PHA II) contribute to exon skipping to different degrees, but the specific molecular mechanism of this aberrant splicing is still unclear.… read more here.
Keywords: cullin3 gene; double synonymous; mutations exon; synonymous mutations ... See more keywords