Experience of targeted Usher exome sequencing as a clinical test

We show that massively parallel targeted sequencing of 19 genes provides a new and reliable strategy for molecular diagnosis of Usher syndrome (USH) and nonsyndromic deafness, particularly appropriate for these disorders characterized by a high clinical and genetic heterogeneity and a complex struct...

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Detalhes bibliográficos
Main Authors: Besnard, Thomas, García-García, Gema, Baux, David, Vaché, Christel, Faugère, Valérie, Larrieu, Lise, Léonard, Susana, Millan, Jose M, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Periodicals 2014
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3907913/
https://ncbi.nlm.nih.gov/pubmed/24498627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.25
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