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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Methods
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190874/
https://www.ncbi.nlm.nih.gov/pubmed/25333064
http://dx.doi.org/10.1002/mgg3.92

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190874/
https://www.ncbi.nlm.nih.gov/pubmed/25333064
http://dx.doi.org/10.1002/mgg3.92

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