Genetic testing for choroideremia

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder associated with variations in the CHM gene. The overall prevalence of CHM varies from 1 in 50 000 to 1 i...

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Bibliographic Details
Main Authors: Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Viola Francesco, Garoli Elena, Colombo Leonardo, Bertelli Matteo
Format: Article
Language:English
Published: Sciendo 2017-10-01
Series:The EuroBiotech Journal
Online Access:https://doi.org/10.24190/ISSN2564-615X/2017/S1.08