Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription

Fioretti, T; Di Iorio, V; Lombardo, B; De Falco, F; Cevenini, A; Cattaneo, F; Testa, F; Pastore, L; Simonelli, F; Esposito, G

Esposito, G (corresponding author), CEINGE Biotecnol Avanzate Sc Arl, Via G Salvatore 486, I-80145 Naples, Italy.; Esposito, G (corresponding author), Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Via S Pansini 5, I-80131 Naples, Italy.

GENES, 2021; 12 (8):

Abstract

Choroideremia (CHM) is a X-linked recessive chorioretinal dystrophy due to deficiency of the CHM gene product, i.e., Rab escort protein isoform 1 (REP......

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