Search Results

Display Settings
Results per page: 10
Sort By: Relevance
Filter
  • 1-7 of  7 results for ""Porphyrias, Hepatic""

Your Filters

Publisher : irl press at oxford university press
Reset filters
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.

  • Authors : Schmitt C; INSERM U656 and Centre Français de Porphyries, Université Paris VII, Hôpital Louis Mourier, Colombes, France.; Gouya L

Subjects: Coproporphyria, Hereditary/Coproporphyria, Hereditary/Coproporphyria, Hereditary/*genetics ; Coproporphyria, Hereditary/Coproporphyria, Hereditary/Coproporphyria, Hereditary/*pathology ; Coproporphyrinogen Oxidase/Coproporphyrinogen Oxidase/Coproporphyrinogen Oxidase/*genetics

  • Source: Human molecular genetics [Hum Mol Genet] 2005 Oct 15; Vol. 14 (20), pp. 3089-98. Date of Electronic Publication: 2005 Sep 13.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model:

Record details

Read More Add to Saved list
×
Academic Journal

Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.

  • Authors : Warnich L; Department of Genetics, University of Stellenbosch, South Africa.; Kotze MJ

Subjects: Haplotypes* ; Oxidoreductases Acting on CH-CH Group Donors*; Oxidoreductases/Oxidoreductases/Oxidoreductases/*genetics

  • Source: Human molecular genetics [Hum Mol Genet] 1996 Jul; Vol. 5 (7), pp. 981-4.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print

Record details

Read More Add to Saved list
×
Academic Journal

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.

  • Authors : Lamoril J; Centre Français des Porphyries, INSERM U.409, Hôpital Louis Mourier, Colombes, France.; Martasek P

Subjects: Coproporphyrinogen Oxidase/Coproporphyrinogen Oxidase/Coproporphyrinogen Oxidase/*genetics ; Porphyrias, Hepatic/Porphyrias, Hepatic/Porphyrias, Hepatic/*genetics; Amino Acid Sequence

  • Source: Human molecular genetics [Hum Mol Genet] 1995 Feb; Vol. 4 (2), pp. 275-8.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print

Record details

Read More Add to Saved list
×
Academic Journal

Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria.

  • Authors : Fujita H; Tohoku University School of Medicine, Sendai, Japan.; Kondo M

Subjects: Point Mutation*; Coproporphyrinogen Oxidase/Coproporphyrinogen Oxidase/Coproporphyrinogen Oxidase/*biosynthesis ; Coproporphyrinogen Oxidase/Coproporphyrinogen Oxidase/Coproporphyrinogen Oxidase/*genetics

  • Source: Human molecular genetics [Hum Mol Genet] 1994 Oct; Vol. 3 (10), pp. 1807-10.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print

Record details

Read More Add to Saved list
×
Academic Journal

Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.

  • Authors : Martasek P; Laboratoire de Génétique Moléculaire, INSERM CFJ 8904, Faculté de Médecine X. Bichat, Université Paris, France.; Nordmann Y

Subjects: Polymorphism, Genetic*; Coproporphyrinogen Oxidase/Coproporphyrinogen Oxidase/Coproporphyrinogen Oxidase/*genetics ; Porphyrias, Hepatic/Porphyrias, Hepatic/Porphyrias, Hepatic/*genetics

  • Source: Human molecular genetics [Hum Mol Genet] 1994 Mar; Vol. 3 (3), pp. 477-80.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print

Record details

Read More Add to Saved list
×
Academic Journal

Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.

  • Authors : Deybach JC; Centre Français des Porphyries, INSERM U409, Hôpital Louis Mourier, Colombes, France.; Puy H

Subjects: Mutation* ; Oxidoreductases Acting on CH-CH Group Donors*; Oxidoreductases/Oxidoreductases/Oxidoreductases/*genetics

  • Source: Human molecular genetics [Hum Mol Genet] 1996 Mar; Vol. 5 (3), pp. 407-10.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print

Record details

Read More Add to Saved list
×
Academic Journal

Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23.

  • Authors : Roberts AG; Department of Medical Biochemistry, Unversity of Wales College of Medicine, UK.; Whatley SD

Subjects: Chromosomes, Human, Pair 1* ; Oxidoreductases Acting on CH-CH Group Donors*; Oxidoreductases/Oxidoreductases/Oxidoreductases/*genetics

  • Source: Human molecular genetics [Hum Mol Genet] 1995 Dec; Vol. 4 (12), pp. 2387-90.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print

Record details

Read More Add to Saved list
×
  • 1-7 of  7 results for ""Porphyrias, Hepatic""