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First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria

Acute porphyrias are a group of monogenetic inborn errors of heme biosynthesis, characterized by acute and potentially life-threatening neurovisceral attacks upon exposure to certain triggering factors. Biochemical analyses can determine the type of acute porphyria, and subsequent genetic analysis a...

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Detalles Bibliográficos
Autores principales:	Belosevic, Adrian, Minder, Anna-Elisabeth, Gueuning, Morgan, van Breemen, Franziska, Thun, Gian Andri, Mattle-Greminger, Maja P., Meyer, Stefan, Baumer, Alessandra, Minder, Elisabeth I., Schneider-Yin, Xiaoye, Barman-Aksözen, Jasmin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10533070/ https://www.ncbi.nlm.nih.gov/pubmed/37763293 http://dx.doi.org/10.3390/life13091889

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