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

Molecular Case Studies(2020)10.1101/mcs.a005496Source: DataRank Database

Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis is a research paper published in Molecular Case Studies (2020). On theSindex it has a DataRank of 0. It has been cited 7 times.

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Open Access7 citations

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Enrichment:Funding (2 grants)OA: goldTopics (58)IDs (PubMed, PMC, OpenAlex)Annotations (1)

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Authors (7)

Stacie D. Adams,Kiely N. James ORCID,Shimul Chowdhury ORCID,Surender Rajasekaran ORCID,Jeremy W. Prokop ORCID

Live enrichment

PubMed:33115767 PMC:PMC7784488 OpenAlex:https://openalex.org/W3096129997

NIEHS NIH HHS

Grant: K01 ES025435

National Institutes of Health

Grant: 1K01ES025435-01

Using a Sequence-to-Structure-to-Function Approach to Functionally Characterize Protein Coding Missense Mutations in the Human and Rat Genomes

goldLicense: cc-by-nc

journalhttp://molecularcasestudies.cshlp.org/content/6/6/a005496.full.pdf

publisherhttp://molecularcasestudies.cshlp.org/content/6/6/a005496.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/mcs.a005496

journalhttps://doi.org/10.1101/mcs.a005496

repositoryhttps://pubmed.ncbi.nlm.nih.gov/33115767

Fields of Study

Genomics and Rare DiseasesBiochemical and Molecular ResearchGenetics and Neurodevelopmental Disorders0301 basic medicine0303 health sciences03 medical and health sciencesFatty AcidsFemaleGenetic Predisposition to DiseaseHomozygoteHumansInfantModels, MolecularMuscle HypotoniaPathology, MolecularPeroxisomal Multifunctional Protein-2Protein ConformationProtein DeficiencyWhole Genome Sequencing

MeSH Terms

Whole Genome SequencingFatty AcidsFemaleHomozygoteHumansInfantModels, MolecularMuscle HypotoniaProtein ConformationProtein DeficiencyGenetic Predisposition to DiseasePathology, MolecularPeroxisomal Multifunctional Protein-2

Keywords

Computational biologyBiologyWhole genome sequencingGeneticsGeneBioinformaticsMedicineGenomeInfantile spasmsRespiratory DifficultiesGeneralized Neonatal HypotoniaVery Long Chain Fatty Acid AccumulationRespiratory Insufficiency Due To Muscle WeaknessModels, MolecularProtein ConformationFatty AcidsHomozygoteInfantProtein DeficiencyHumansMuscle HypotoniaFemaleGenetic Predisposition to DiseasePathology, MolecularPeroxisomal Multifunctional Protein-2Rapid Communication

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

FAIR Checklist

Authors (7)

Funding (2 grants)

Open Access

Topics

Annotations (Europe PMC)