A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could <i>CHM</i> In-Frame Variants Exert a Dominant Negative Effect? A Case Report
Choroideremia is an X-linked recessive condition presenting in males, with progressive degeneration of retinal and choroidal tissues leading to progressive visual loss. Its pathological mechanism is due to alterations in the <i>CHM</i> gene that encodes for REP1, a protein required for p...
Main Authors: | Niccolò Di Giosaffatte, Michele Valiante, Stefano Tricarico, Giulia Parise, Anna Maria De Negri, Guido Ricciotti, Lara Florean, Alessandro Paiardini, Irene Bottillo, Paola Grammatico |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2022-07-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/13/7/1268 |
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