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Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Densi...

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Densi...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6406497

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene

About this item

Full title

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene

Publisher

Switzerland: MDPI

Journal title

Journal of clinical medicine, 2019-02, Vol.8 (2), p.212

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI

More information

Scope and Contents

Contents

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with high heritability, although their underlying genetic factors are still largely unknown. Here we present a comprehensive genetic characterization of two ASD siblings from Sardinia by genome-wide copy number variation analysis and whole exome sequencing (WES), to identi...

Alternative Titles

Full title

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6406497

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6406497

Other Identifiers

ISSN

2077-0383

E-ISSN

2077-0383

DOI

10.3390/jcm8020212

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