TY  - JOUR
AU  - Yubero, Delia
AU  - Brandi, Nuria
AU  - Ormazabal, Aida
AU  - Garcia-Cazorla, Angels
AU  - Perez-Duenas, Belen
AU  - Campistol, Jaime
AU  - Ribes, Antonia
AU  - Palau, Francesc
AU  - Artuch, Rafael
AU  - Armstrong, Judith
AU  - Working Grp
PY  - 2016
DO  - 10.1371/journal.pone.0156359
SN  - 1932-6203
UR  - https://hdl.handle.net/10668/25605
T2  - Plos one
AB  - BackgroundNext-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was...
LA  - en
PB  - Public library science
KW  - Exonic splicing enhancer
KW  - Molecular diagnosis
KW  - Mendelian disorders
KW  - Hartnup disorder
KW  - Gene
KW  - Deficiency
KW  - Mutation
KW  - Diseases
KW  - Acid
KW  - Childhood
TI  - Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism
TY  - research article
VL  - 11
ER  -