Literature DB >> 26410678

Timely diagnosis of Wilson's disease using whole exome sequencing.

Sergio A Rodríguez-Quiroga1, Julieta Rosales2, Tomoko Arakaki3, Marta Cordoba4, Dolores González-Morón5, Nancy Medina6, Nélida S Garretto7, Marcelo A Kauffman8.   

Abstract

Entities:  

Keywords:  ATP7B gene; Exome sequencing; Neurogenetics; Next-generation-sequencing; Wilson's disease

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Year:  2015        PMID: 26410678     DOI: 10.1016/j.parkreldis.2015.09.031

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN: 1353-8020            Impact factor:   4.891


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  1 in total

1.  Genetics and genomic medicine in Argentina.

Authors:  Javier Cotignola; Sandra Rozental; Noemí Buzzalino; Liliana Dain
Journal:  Mol Genet Genomic Med       Date:  2019-02-05       Impact factor: 2.183

  1 in total

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