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Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital H...

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital H...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1840944134

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

About this item

Full title

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

Publisher

United States: Public Library of Science

Journal title

PLoS genetics, 2016-10, Vol.12 (10), p.e1006335

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Left-ventricular outflow tract obstructions (LVOTO) encompass a wide spectrum of phenotypically heterogeneous heart malformations which frequently cluster in families. We performed family based whole-exome and targeted re-sequencing on 182 individuals from 51 families with multiple affected members. Central to our approach is the family unit which...

Alternative Titles

Full title

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1840944134

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1840944134

Other Identifiers

ISSN

1553-7404,1553-7390

E-ISSN

1553-7404

DOI

10.1371/journal.pgen.1006335

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