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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
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
Format: Artigo
Jezik:Inglês
Izdano: Blackwell Publishing Ltd 2014
Teme:
Methods
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki