Screening for single nucleotide variants, small indels and exon deletions with a next‐generation sequencing based gene panel approach for U sher syndrome
نویسندگان
چکیده
منابع مشابه
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 analysis is predestined for a comprehensive and parallelized analysis of all known genes by next-genera...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2014
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.92