A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III
- 1 January 1995
- Vol. 25 (1), 164-169
- https://doi.org/10.1016/0888-7543(95)80122-3
Abstract
No abstract availableKeywords
This publication has 35 references indexed in Scilit:
- Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activityHuman Molecular Genetics, 1993
- Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.Journal of Clinical Investigation, 1992
- Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide.Journal of Clinical Investigation, 1991
- Serum F protein: A new sensitive and specific test of hepatocellular damageClinica Chimica Acta; International Journal of Clinical Chemistry, 1989
- Enzymatic amplification of platelet-specific messenger RNA using the polymerase chain reaction.Journal of Clinical Investigation, 1988
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Cellular Location of ‘Liver‐Specific’ Antigen FScandinavian Journal of Immunology, 1986
- Genetic control of morphogenetic and biochemical differentiation: Lethal albino deletions in the mouseCell, 1979
- Isolation and characterization of a liver-specific antigen (F-Ag) from human liverImmunochemistry, 1977
- Induction by Allogeneic Extracts of Liver-specific Precipitating Autoantibodies in the MouseNature, 1968