The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction

On the enzymic defects in hereditary tyrosinemia.

Bengt Lindblad, Sandra Lindstedt, Göran O. Steen · Proceedings of the National Academy of Sciences · 1977 · 454 citations · Full text

Fresh Urine Samples, Genetics, Molecular Biology +16

Loss of exon identity is a common mechanism of human inherited disease

Timothy Sterne-Weiler, Jonathan M. Howard, Matthew Mort et al. · Genome Research · 2011 · 176 citations · Full text

Human Inherited Disease, Common Mechanism, Genetics +20

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

Tyrosinemia Type, Genetics, Mosaic Pattern +18

A Single Mutation of the Fumarylacetoacetate Hydrolase Gene in French Canadians with Hereditary Tyrosinemia Type I

Markus Grompe, Maryse St.-Louis, Sylvie I. Demers et al. · New England Journal of Medicine · 1994 · 134 citations · Full text

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

Eugenio Fernandez Alanis, Mirko Pinotti, Andrea Dal Mas et al. · Human Molecular Genetics · 2012 · 101 citations

Chromatin, Systems Biology, Engineering +13