Photo from wikipedia
Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to… Click to show full abstract
Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases, including choroideremia (CHM), a rare X‐linked eye disorder arising from sequence alteration of the CHM gene. Herein we report an exonic frameshift variant associated with an mRNA splicing alteration that leads to a CHM hypomorphic allele.
Keywords:
splicing alteration;
choroideremia;
alteration;
chm gene;
frameshift variant;
chm
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!