Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
Journal
bioRxiv : the preprint server for biology
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187
Informations de publication
Date de publication:
06 Feb 2023
06 Feb 2023
Historique:
entrez:
17
2
2023
pubmed:
18
2
2023
medline:
18
2
2023
Statut:
epublish
Résumé
Defects in hydroxymethylbilane synthase (HMBS) can cause Acute Intermittent Porphyria (AIP), an acute neurological disease. Although sequencing-based diagnosis can be definitive, ~⅓ of clinical HMBS variants are missense variants, and most clinically-reported HMBS missense variants are designated as "variants of uncertain significance" (VUS). Using saturation mutagenesis,
Identifiants
pubmed: 36798224
doi: 10.1101/2023.02.06.527353
pmc: PMC9934555
pii:
doi:
Types de publication
Preprint
Langues
eng
Subventions
Organisme : NHGRI NIH HHS
ID : RM1 HG010461
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG011989
Pays : United States
Commentaires et corrections
Type : UpdateIn
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