Artículo
De Siervi, A.; Parera, V.E.; del C Batlle, A.M.; Rossetti, M.V. "Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria." (2000) Human mutation. 16(6):532
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| Documento: | Artículo |
| Título: | Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria. |
| Autor: | De Siervi, A.; Parera, V.E.; del C 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; histidine; leucine; mitochondrial protein; oxidoreductase; PPOX protein, human; proline; protoporphyrinogen oxidase; valine; amino acid substitution; article; enzymology; genetics; hepatic porphyria; human; missense mutation; Amino Acid Substitution; Flavoproteins; Histidine; Humans; Leucine; Mitochondrial Proteins; Mutation, Missense; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Porphyrias, Hepatic; Proline; Protoporphyrinogen Oxidase; Valine |
| Año: | 2000 |
| Volumen: | 16 |
| Número: | 6 |
| Página de inicio: | 532 |
| Título revista: | Human mutation |
| Título revista abreviado: | Hum. Mutat. |
| ISSN: | 10981004 |
| CAS: | histidine, 645-35-2, 7006-35-1, 71-00-1; leucine, 61-90-5, 7005-03-0; oxidoreductase, 9035-73-8, 9035-82-9, 9037-80-3, 9055-15-6; proline, 147-85-3, 7005-20-1; protoporphyrinogen oxidase, 53986-32-6; valine, 7004-03-7, 72-18-4; Flavoproteins; Histidine, 71-00-1; Leucine, 61-90-5; Mitochondrial Proteins; Oxidoreductases, EC 1.-, 7004-03-7; Oxidoreductases Acting on CH-CH Group Donors, EC 1.3.-; PPOX protein, human, EC 1.3.3.4, 61-90-5; Proline, 147-85-3, 71-00-1; Protoporphyrinogen Oxidase, EC 1.3.3.4, 147-85-3; Valine, 7004-03-7, 71-00-1 |
| Registro: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10981004_v16_n6_p532_DeSiervi |
Citas:
---------- APA ----------
De Siervi, A., Parera, V.E., del C Batlle, A.M. & Rossetti, M.V. (2000) . Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria. Human mutation, 16(6), 532.Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10981004_v16_n6_p532_DeSiervi [ ]
---------- CHICAGO ----------
De Siervi, A., Parera, V.E., del C Batlle, A.M., Rossetti, M.V. "Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria." Human mutation 16, no. 6 (2000) : 532.Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10981004_v16_n6_p532_DeSiervi [ ]
---------- MLA ----------
De Siervi, A., Parera, V.E., del C Batlle, A.M., Rossetti, M.V. "Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria." Human mutation, vol. 16, no. 6, 2000, pp. 532.Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10981004_v16_n6_p532_DeSiervi [ ]
---------- VANCOUVER ----------
De Siervi, A., Parera, V.E., del C Batlle, A.M., Rossetti, M.V. Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria. Hum. Mutat. 2000;16(6):532.Available from: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_10981004_v16_n6_p532_DeSiervi [ ]
