Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1,...

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Detalles Bibliográficos
Autores principales: Eandi, Chiara M., Dallorto, Laura, Spinetta, Roberta, Micieli, Maria Pia, Vanzetti, Mario, Mariottini, Alessandro, Passerini, Ilaria, Torricelli, Francesca, Alovisi, Camilla, Marchese, Cristiana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5688149/
https://www.ncbi.nlm.nih.gov/pubmed/29142287
http://dx.doi.org/10.1038/s41598-017-16014-z

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