Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Mostrar otras versiones (1)

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...

Descripción completa

Detalles Bibliográficos
Autores principales: van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C. H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K, Desnick, Robert J., Garton, Michael, Roth, Frederick P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9934555/
https://www.ncbi.nlm.nih.gov/pubmed/36798224
http://dx.doi.org/10.1101/2023.02.06.527353

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9934555/
https://www.ncbi.nlm.nih.gov/pubmed/36798224
http://dx.doi.org/10.1101/2023.02.06.527353

Ejemplares similares