Novel non-contiguous exon duplication in choroideremia

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...

書誌詳細
主要な著者:	Edwards, T, Williams, J, Patrício, M, Simunovic, M, Shanks, M, Clouston, P, MacLaren, R
フォーマット:	Journal article
言語:	English
出版事項:	Wiley 2017

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