Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. 1985.

1992 • 740 citations

The occurrence of hepatoma in the chronic form of hereditary tyrosinemia

1976 • 282 citations

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

1994 • 170 citations

Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.

1990 • 164 citations

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

1994 • 133 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

Hereditary tyrosinemia in a French Canadian isolate.

1969 • 63 citations

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

1993 • 51 citations

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I

1994 • 49 citations

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

1987 • 38 citations

Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.

1994 • 32 citations

Nucleotide sequence of cDNA encoding human fumarylacetoacetase

1990 • 30 citations

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

1994 • 23 citations

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

1994 • 22 citations

Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

1994 • 22 citations

35 DIFFERENT TYPES OF MUTATIONS IN CHRONIC AND ACUTE FORMS OF TYPE 1 TYROSINEMIA

1988 • 16 citations

Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

1994 • 14 citations