Acute intermittent porphyria in argentina: An update

Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in hydroxymethylbilane synthase (HMBS) produces a hepatic disorder named Acute Intermittent Porphyria (AIP); the acute porphyria is more frequent in Argentina. In this pap...

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Detalles Bibliográficos
Autores principales:	Cerbino, G.N., Gerez, E.N., Varela, L.S., Melito, V.A., Parera, V.E., Batlle, A., Rossetti, M.V.
Formato:	JOUR
Materias:	acute intermittent porphyria adult aged Argentina Article clinical article controlled study electrophoresis exon family female founder effect frameshift mutation gene deletion heterozygote human intron male middle aged missense mutation mutational analysis nucleic acid base substitution Paraguay population prevalence reverse transcription polymerase chain reaction single nucleotide polymorphism splicing defect young adult clinical trial genetics mutation Porphyria, Acute Intermittent Adult Aged Family Female Humans Male Middle Aged Mutation Prevalence
Acceso en línea:	http://hdl.handle.net/20.500.12110/paper_23146133_v2015_n_p_Cerbino
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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