Artículo
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." (2000) Human mutation. 16(1):96
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Registro:
| Documento: | Artículo |
| Título: | A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria. |
| Autor: | Siervi, A.D.; Parera, V.E.; Varela, L.S.; Batlle, A.M.; Rossetti, M.V. |
| Filiación: | Centro de Investigaciones sobre Porfirinas y Porfirias, CONICET and Fac. Ciencias Exactas y Naturales, University of Buenos Aires, Argentina |
| Palabras clave: | 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 |
| Año: | 2000 |
| Volumen: | 16 |
| Número: | 1 |
| Página de inicio: | 96 |
| DOI: | http://dx.doi.org/10.1002/1098-1004(200007)16:1<96::AID-HUMU34>3.0.CO;2-P |
| Título revista: | Human mutation |
| Título revista abreviado: | Hum. Mutat. |
| ISSN: | 10981004 |
| CAS: | oxidoreductase, 9035-73-8, 9035-82-9, 9037-80-3, 9055-15-6; porphyrin, 24869-67-8; protoporphyrinogen oxidase, 53986-32-6; Flavoproteins; Mitochondrial Proteins; Oxidoreductases, EC 1.-; Oxidoreductases Acting on CH-CH Group Donors, EC 1.3.-; Porphyrins; PPOX protein, human, EC 1.3.3.4, EC 1.3.-; Protoporphyrinogen Oxidase, EC 1.3.3.4 |
| Registro: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10981004_v16_n1_p96_Siervi |
Citas:
---------- APA ----------
Siervi, A.D., Parera, V.E., Varela, L.S., Batlle, A.M. & Rossetti, M.V. (2000) . A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria. Human mutation, 16(1), 96.http://dx.doi.org/10.1002/1098-1004(200007)16:1<96::AID-HUMU34>3.0.CO;2-P
---------- CHICAGO ----------
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." Human mutation 16, no. 1 (2000) : 96.http://dx.doi.org/10.1002/1098-1004(200007)16:1<96::AID-HUMU34>3.0.CO;2-P
---------- MLA ----------
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." Human mutation, vol. 16, no. 1, 2000, pp. 96.http://dx.doi.org/10.1002/1098-1004(200007)16:1<96::AID-HUMU34>3.0.CO;2-P
---------- VANCOUVER ----------
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. Hum. Mutat. 2000;16(1):96.http://dx.doi.org/10.1002/1098-1004(200007)16:1<96::AID-HUMU34>3.0.CO;2-P
