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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Cold Spring Harb Mol Case Stud
Egile Nagusiak: Savage, Lane, Adams, Stacie D., James, Kiely, Chowdhury, Shimul, Rajasekaran, Surender, Prokop, Jeremy W., Bupp, Caleb
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Cold Spring Harbor Laboratory Press 2020
Gaiak:
Rapid Communication
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7784488/
https://ncbi.nlm.nih.gov/pubmed/33115767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a005496
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