Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease

Many genes have been implicated in the development of congenital heart disease (CHD). Next-generation sequencing offers opportunities for genetic testing but is often complicated by logistic and interpretative hurdles.

Gespeichert in:
Autor*in:

Blue, Gillian M. [verfasserIn]

Kirk, Edwin P.

Giannoulatou, Eleni

Dunwoodie, Sally L.

Ho, Joshua W.K.

Hilton, Desiree C.K.

White, Susan M.

Sholler, Gary F.

Harvey, Richard P.

Winlaw, David S.

Format:

E-Artikel

Sprache:

Englisch

Erschienen:

2014

Schlagwörter:

congenital heart defects

gene panel

molecular diagnosis

Umfang:

9

Übergeordnetes Werk:

Enthalten in: Bimetallic diffusion modeling and temperature regulation during ball milling - Aureli, Matteo ELSEVIER, 2018, JACC, New York, NY

Übergeordnetes Werk:

volume:64 ; year:2014 ; number:23 ; day:16 ; month:12 ; pages:2498-2506 ; extent:9

Links:

Volltext

DOI / URN:

10.1016/j.jacc.2014.09.048

Katalog-ID:

ELV012407437

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