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:	Parera, Victoria Estela, Batlle, Alcira María del Carmen, Rossetti, María Victoria
Publicado:	2000
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:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10981004_v16_n1_p96_Siervi 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	paper:paper_10981004_v16_n1_p96_Siervi
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spelling	paper:paper_10981004_v16_n1_p96_Siervi2023-06-08T16:07:59Z A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria. Parera, Victoria Estela Batlle, Alcira María del Carmen Rossetti, María Victoria 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. 2000 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10981004_v16_n1_p96_Siervi 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 Parera, Victoria Estela Batlle, Alcira María del Carmen Rossetti, María Victoria 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.
author	Parera, Victoria Estela Batlle, Alcira María del Carmen Rossetti, María Victoria
author_facet	Parera, Victoria Estela Batlle, Alcira María del Carmen Rossetti, María Victoria
author_sort	Parera, Victoria Estela
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.
publishDate	2000
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10981004_v16_n1_p96_Siervi 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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