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A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses

Aim: To test the utility of targeted sequencing as a method of clinical molecular testing in patients diagnosed with inherited retinal degeneration (IRD). Methods: After genetic counseling, peripheral blood was drawn from 188 probands and 36 carriers of IRD. Single gene testing was performed on each...

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Detalhes bibliográficos
Publicado no:Genet Test Mol Biomarkers
Main Authors: Ramkumar, Hema L., Gudiseva, Harini V., Kishaba, Kameron T., Suk, John J., Verma, Rohan, Tadimeti, Keerti, Thorson, John A., Ayyagari, Radha
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc. 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5327051/
https://ncbi.nlm.nih.gov/pubmed/28005406
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2016.0251
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