Concepedia

Tyrosinaemia type I—de novo mutation in liver tissue suppressing an inborn splicing defect

Yngve Thomas Bliksrud, Else Brodtkorb, Per Arne Andresen, Inge E.T. van den Berg, E. A. Kvittingen

Journal of Molecular Medicine · 2005 · 30 citations · 11 references

DOI

Concepts

References

11

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

, , +13

The Metabolic Basis of Inherited Disease

John T. Garland · JAMA · 1990 · 658 citations

, , +13

Analysis of canonical and non-canonical splice sites in mammalian genomes

Moisès Burset · Nucleic Acids Research · 2000 · 625 citations · Full text

, , +8

Self-induced correction of the genetic defect in tyrosinemia type I.

E. A. Kvittingen, Helge Rootwelt, Ruud Berger et al. · Journal of Clinical Investigation · 1994 · 169 citations · Full text

, , +17

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

E. A. Kvittingen, Helge Rootwelt, P Brandtzæg et al. · Journal of Clinical Investigation · 1993 · 103 citations · Full text

, , +16