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Ophthalmic Genetics Volume 41, 2020 - Issue 4
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Mutation Reports

A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia

Kaylie D. Jonesa Retina Foundation of the S.W., Dallas, TX, USACorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0003-2818-5097View further author information
ORCID Icon,
Alina Radziwonb Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, CanadaView further author information
,
David G. Bircha Retina Foundation of the S.W., Dallas, TX, USA;c Ophthalmology, UTSW Medical Center, Dallas, TX, USAView further author information
&
Ian M. MacDonaldb Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, CanadaORCID Iconhttps://orcid.org/0000-0001-7472-8385View further author information
ORCID Icon
Pages 341-344 | Received 10 Apr 2020, Accepted 09 May 2020, Published online: 22 May 2020

References

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