A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.

Fil:Parera, V.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina.

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Detalles Bibliográficos
Autores principales:	Siervi, A.D., Parera, V.E., Varela, L.S., Batlle, A.M., Rossetti, M.V.
Formato:	JOUR
Materias:	flavoprotein mitochondrial protein oxidoreductase porphyrin PPOX protein, human protoporphyrinogen oxidase Argentina article dominant gene enzymology gene expression regulation genetics hepatic porphyria human metabolism mutation Flavoproteins Genes, Dominant Humans Mitochondrial Proteins Mutagenesis, Insertional Mutation Oxidoreductases Oxidoreductases Acting on CH-CH Group Donors Porphyrias, Hepatic Porphyrins Protoporphyrinogen Oxidase
Acceso en línea:	http://hdl.handle.net/20.500.12110/paper_10981004_v16_n1_p96_Siervi
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	todo:paper_10981004_v16_n1_p96_Siervi
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spelling	todo:paper_10981004_v16_n1_p96_Siervi2023-10-03T16:06:31Z A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria. Siervi, A.D. Parera, V.E. Varela, L.S. Batlle, A.M. Rossetti, M.V. flavoprotein mitochondrial protein oxidoreductase porphyrin PPOX protein, human protoporphyrinogen oxidase Argentina article dominant gene enzymology gene expression regulation genetics hepatic porphyria human metabolism mutation Argentina Flavoproteins Genes, Dominant Humans Mitochondrial Proteins Mutagenesis, Insertional Mutation Oxidoreductases Oxidoreductases Acting on CH-CH Group Donors Porphyrias, Hepatic Porphyrins Protoporphyrinogen Oxidase Fil:Parera, V.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Batlle, A.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Rossetti, M.V. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_10981004_v16_n1_p96_Siervi
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	flavoprotein mitochondrial protein oxidoreductase porphyrin PPOX protein, human protoporphyrinogen oxidase Argentina article dominant gene enzymology gene expression regulation genetics hepatic porphyria human metabolism mutation Argentina Flavoproteins Genes, Dominant Humans Mitochondrial Proteins Mutagenesis, Insertional Mutation Oxidoreductases Oxidoreductases Acting on CH-CH Group Donors Porphyrias, Hepatic Porphyrins Protoporphyrinogen Oxidase
spellingShingle	flavoprotein mitochondrial protein oxidoreductase porphyrin PPOX protein, human protoporphyrinogen oxidase Argentina article dominant gene enzymology gene expression regulation genetics hepatic porphyria human metabolism mutation Argentina Flavoproteins Genes, Dominant Humans Mitochondrial Proteins Mutagenesis, Insertional Mutation Oxidoreductases Oxidoreductases Acting on CH-CH Group Donors Porphyrias, Hepatic Porphyrins Protoporphyrinogen Oxidase Siervi, A.D. Parera, V.E. Varela, L.S. Batlle, A.M. Rossetti, M.V. A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
topic_facet	flavoprotein mitochondrial protein oxidoreductase porphyrin PPOX protein, human protoporphyrinogen oxidase Argentina article dominant gene enzymology gene expression regulation genetics hepatic porphyria human metabolism mutation Argentina Flavoproteins Genes, Dominant Humans Mitochondrial Proteins Mutagenesis, Insertional Mutation Oxidoreductases Oxidoreductases Acting on CH-CH Group Donors Porphyrias, Hepatic Porphyrins Protoporphyrinogen Oxidase
description	Fil:Parera, V.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina.
format	JOUR
author	Siervi, A.D. Parera, V.E. Varela, L.S. Batlle, A.M. Rossetti, M.V.
author_facet	Siervi, A.D. Parera, V.E. Varela, L.S. Batlle, A.M. Rossetti, M.V.
author_sort	Siervi, A.D.
title	A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
title_short	A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
title_full	A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
title_fullStr	A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
title_full_unstemmed	A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
title_sort	novel mutation (1320inst) identified in two argentine families with variegate porphyria.
url	http://hdl.handle.net/20.500.12110/paper_10981004_v16_n1_p96_Siervi
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A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.

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