A novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria

KEY CLINICAL MESSAGE: The detection of a novel HMBS gene mutation (c.457C > T) in a Mexican woman with acute intermittent porphyria underscores the importance of expanding genetic analyses in diverse populations to improve diagnosis, management, and knowledge of the disease's clinical implic...

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Detalles Bibliográficos
Autores principales: Malagon‐Rangel, Jose, Solis, Jose Gabriel, Zavala‐Jonguitud, Luis Fernando, Basile‐Alvarez, Martín Roberto, Malagon‐Liceaga, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10600359/
https://www.ncbi.nlm.nih.gov/pubmed/37900716
http://dx.doi.org/10.1002/ccr3.8100

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