Novel non-contiguous exon duplication in choroideremia
The importance of establishing a genetic diagnosis in patients with a choroideremia phenotype has been underscored by the advent of gene replacement therapy for this condition. Here, we describe a complex imbalance at the CHM locus in a male patient with classical disease. At the DNA level, this imb...
| Hauptverfasser: | , , , , , , |
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| Format: | Journal article |
| Sprache: | English |
| Veröffentlicht: |
Wiley
2017
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