CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia | Zendy

Valentina Di Iorio | Zendy; Gabriella Esposito | Zendy; Francesca De Falco | Zendy; Rosa Boccia | Zendy; Tiziana Fioretti | Zendy; Raffaella Colucci | Zendy; Giuseppe De Rosa | Zendy; Paolo Melillo | Zendy; Francesco Salvatore | Zendy; Francesca Simonelli | Zendy; Francesco Testa | Zendy

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CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia

Author(s) -

Valentina Di Iorio,

Gabriella Esposito,

Francesca De Falco,

Rosa Boccia,

Tiziana Fioretti,

Raffaella Colucci,

Giuseppe De Rosa,

Paolo Melillo,

Francesco Salvatore,

Francesca Simonelli,

Francesco Testa

Publication year - 2019

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.18-25501

Subject(s) - choroideremia , expression (computer science) , function (biology) , genetics , medicine , ophthalmology , biology , computer science , gene , programming language

To evaluate the disease progression in patients with clinical and genetic diagnoses of choroideremia during a long-term follow-up and to investigate the relationship between pathogenic variants in the CHM/REP1 gene and disease phenotypes.

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