Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia

Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia

We screened patients with choroideremia using next-generation sequencing (NGS) and identified a novel mutation and a known mutation in the CHM gene. One patient presented an atypical fundus appearance for choroideremia. Another patient presented macular hole retinal detachment in the left eye. The p...

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Bibliographic Details
Main Authors: Kayo Shimizu, Akio Oishi, Maho Oishi, Ken Ogino, Satoshi Morooka, Masako Sugahara, Norimoto Gotoh, Nagahisa Yoshimura
Format: Article
Language:English
Published: Karger Publishers 2015-07-01
Series:Case Reports in Ophthalmology
Subjects:
Choroideremia
Next-generation sequencing
Utility
Diagnosis
Online Access:http://www.karger.com/Article/FullText/437348

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