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Article

Comprehensive molecular testing in patients with high functioning autism spectrum disorder.

Mutation research - 1 Jan 2000

Alvarez-Mora Maria Isabel, Calvo Escalona Rosa, Puig Navarro Olga, Madrigal Irene, Quintela Ines, Amigo Jorge, Martinez-Elurbe Dei, Linder-Lucht Michaela, Aznar Lain Gemma, Carracedo Angel, Mila Montserrat, Rodriguez-Revenga Laia

Abstract excerpt

Autism spectrum disorders (ASD) include a range of complex neurodevelopmental disorders with extreme genetic heterogeneity. Exome and target sequencing studies have shown to be an effective tool for the discovery of new ASD genes. The aim of this study was to design an ASD candidate gene panel that covers 44 of the top ASD candidate genes. As a pilot study we performed comprehensive molecular diagnostic testing,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26845707
DOI: 10.1016/j.mrfmmm.2015.12.006

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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