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...
| 主要な著者: | , , , , , , |
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| フォーマット: | Journal article |
| 言語: | English |
| 出版事項: |
Wiley
2017
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