Tyrosinemia type 1 ? complex splicing defects and a missense mutation in the fumarylacetoacetase gene

Number and evolutionary conservation of α- and β-tubulin and cytoplasmic β- and γ-actin genes using specific cloned cDNA probes

1980 • 1,884 citations

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

1992 • 625 citations

Automated DNA sequencing: ultrasensitive detection of fluorescent bands during electrophoresis

1987 • 328 citations

The occurrence of hepatoma in the chronic form of hereditary tyrosinemia

1976 • 282 citations

Bidirectional solid-phase sequencing of in vitro-amplified plasmid DNA.

1991 • 264 citations

Neurologic Crises in Hereditary Tyrosinemia

1990 • 224 citations

Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.

1991 • 117 citations

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

1993 • 103 citations

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

1992 • 84 citations

Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity

1993 • 68 citations

Human pre-mRNA splicing signals

1991 • 63 citations

Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I

1993 • 51 citations

T7 DNA polymerase in automated dideoxy sequencing

1988 • 42 citations

Type I Tyrosinemia: Lack of Immunologically Detectable Fumarylacetoacetase Enzyme Protein in Tissues and Cell Extracts

1987 • 38 citations

Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions

1991 • 38 citations

The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase.

1986 • 30 citations

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase

1994 • 22 citations

The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency

1992 • 17 citations

Cloning and expression analysis of a cDNA encoding fumarylacetoacetate hydrolase: post-transcriptional modulation in rat liver and kidney

1991 • 16 citations

Nucleotide sequence of a cDNA encoding murine fumarylacetoacetate hydrolase

1992 • 13 citations