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Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias
Dixon, Natalia, Li, Ting, Marion, Brandon, Faust, Denise, Dozier, Stephen, Molina, Anthony, Rudnick, Sean, Bonkovsky, Herbert L.
Published in Molecular genetics and metabolism (01.11.2019)
Published in Molecular genetics and metabolism (01.11.2019)
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Journal Article
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria
Lenglet, Hugo, Schmitt, Caroline, Grange, Thomas, Manceau, Hana, Karboul, Narjesse, Bouchet-Crivat, Florian, Robreau, Anne-Marie, Nicolas, Gael, Lamoril, Jerôme, Simonin, Sylvie, Mirmiran, Arienne, Karim, Zoubida, Casalino, Enrique, Deybach, Jean-Charles, Puy, Hervé, Peoc'h, Katell, Gouya, Laurent
Published in Human molecular genetics (01.04.2018)
Published in Human molecular genetics (01.04.2018)
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Journal Article
Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations
Ma, Yuelin, Zhang, Songyun, Teng, Qing, Zhang, Yiran
Published in Intractable & Rare Diseases Research (01.11.2020)
Published in Intractable & Rare Diseases Research (01.11.2020)
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Journal Article
Identification of valid reference genes for the normalization of RT qPCR gene expression data in human brain tissue
Coulson, David TR, Brockbank, Simon, Quinn, Joseph G, Murphy, Suzanne, Ravid, Rivka, Irvine, G Brent, Johnston, Janet A
Published in BMC molecular biology (06.05.2008)
Published in BMC molecular biology (06.05.2008)
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Journal Article
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)
Dragneva, Sonya, Szyszka-Niagolov, Monika, Ivanova, Aneta, Mateva, Lyudmila, Izumi, Rumiko, Aoki, Yoko, Matsubara, Yoichi
Published in JIMD Reports Volume 16 (01.01.2014)
Published in JIMD Reports Volume 16 (01.01.2014)
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Book Chapter
Journal Article
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms
Robreau-Fraolini, A.M., Puy, H., Aquaron, C., Bogard, C., Traore, M., Nordmann, Y., Aquaron, R., Deybach, J.C.
Published in Human genetics (01.08.2000)
Published in Human genetics (01.08.2000)
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Journal Article
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart
Martinez di Montemuros, F, Di Pierro, E, Patti, E, Tavazzi, D, Danielli, M G, Biolcati, G, Rocchi, E, Cappellini, M D
Published in Cellular and molecular biology (Noisy-le-Grand, France) (01.12.2002)
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Published in Cellular and molecular biology (Noisy-le-Grand, France) (01.12.2002)
Journal Article