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

Autor: Jones, Kaylie D.1 (AUTHOR) kwebb@retinafoundation.org, Radziwon, Alina2 (AUTHOR), Birch, David G.1,3 (AUTHOR), MacDonald, Ian M.2 (AUTHOR)
Zdroj: Ophthalmic Genetics. Aug2020, Vol. 41 Issue 4, p341-344. 4p.
Databáze: Academic Search Ultimate
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