Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

Usher syndrome is an autosomal recessive disorder characterized both by deafness and blindness. For the three clinical subtypes of Usher syndrome causal mutations in altogether 12 genes and a modifier gene have been identified. Due to the genetic heterogeneity of Usher syndrome, the molecular analys...

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Main Authors: Krawitz, Peter M, Schiska, Daniela, Krüger, Ulrike, Appelt, Sandra, Heinrich, Verena, Parkhomchuk, Dmitri, Timmermann, Bernd, Millan, Jose M, Robinson, Peter N, Mundlos, Stefan, Hecht, Jochen, Gross, Manfred
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2014
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Methods
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4190874/
https://ncbi.nlm.nih.gov/pubmed/25333064
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.92
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