Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis

Rapid whole-genome sequencing (rWGS) allows for a diagnosis to be made quickly and impact medical management, particularly in critically ill children. Variants identified by this approach are often not identified using other testing methodologies, such as carrier screening or gene sequencing panels,...

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Detalles Bibliográficos
Autores principales: Savage, Lane, Adams, Stacie D., James, Kiely, Chowdhury, Shimul, Rajasekaran, Surender, Prokop, Jeremy W., Bupp, Caleb
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784488/
https://www.ncbi.nlm.nih.gov/pubmed/33115767
http://dx.doi.org/10.1101/mcs.a005496

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784488/
https://www.ncbi.nlm.nih.gov/pubmed/33115767
http://dx.doi.org/10.1101/mcs.a005496

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