Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis

Aims: X-linked juvenile retinoschisis (XLRS) is a severe ocular disorder that can evolve to blindness. More than 200 different disease-causing mutations have been reported in the RS1 gene and approximately 10% of these are deletions. Since transmission is X-linked, males are always affected and fema...

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Detalhes bibliográficos
Publicado no:Genet Test Mol Biomarkers
Main Authors: Nicoletti, Annalisa, Ziccardi, Lucia, Maltese, Paolo Enrico, Benedetti, Sabrina, Palumbo, Orazio, Rendina, Michelina, D'Agruma, Leonardo, Falsini, Benedetto, Wang, Xinjing, Bertelli, Matteo
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc. 2017
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5335781/
https://ncbi.nlm.nih.gov/pubmed/27997221
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2016.0257
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