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Isabelle Hombrados

University of Bordeaux

20

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Congenital Erythropoietic Porphyria: a Novel Homozygous Mutation in a Japanese Patient

2000 Journal of Investigative Dermatology
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Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT

1999 Human Mutation
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Expression, purification, crystallization and preliminary X-ray diffraction analysis of human uroporphyrinogen decarboxylase

1998 Acta Crystallographica Section D-biological Crystallography
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Hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda patients: The influence of virus C infection

1998 Hepatology
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Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family

1997 American Journal of Medical Genetics
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Identification of Two New Mutations in Congenital Erythropoietic Porphyria

1995 European Journal of Human Genetics
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The primary structure of the hemoglobins of a Southern hemisphere lamprey (Mordacia mordax, Cyclostomata)

1991 Biological chemistry Hoppe-Seyler
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Carnivora the primary structure of the alpha chains of ferret mustela putorius furo mustelidae hemoglobins

1989 Biological chemistry Hoppe-Seyler
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Hemoglobin J-Rovigo or a 2 53(E2)ALA?ASP 2 in a Saudi Patient

1987 Hemoglobin
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Haemoglobins, LX. Primary structure of the major haemoglobin of the sea lamprey Petromyzon marinus (var. Garonne, Loire)

1983 Biochimie
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