Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.

A Rapid and Sensitive Method for the Quantitation of Microgram Quantities of Protein Utilizing the Principle of Protein-Dye Binding

1976 • 225,752 citations

DNA polymorphism and molecular pathology of the human globin gene clusters

1985 • 251 citations

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1986 • 249 citations

DNA restriction fragments associated with α1-antitrypsin indicate a single origin for deficiency allele PI Z

1985 • 171 citations

DNA restriction fragment length polymorphisms and heterozygosity in the human genome

1984 • 147 citations

MUCOPOLYSACCHARIDOSIS BY ABSENCE OF α-FUCOSIDASE

1968 • 133 citations

Deficiency of α-L-Fucosidase

1972 • 79 citations

Molecular cloning of a cDNA for human alpha-L-fucosidase.

1985 • 78 citations

Chromogenic Immuno detection of Human Serum Albumin and α-<scp>l</scp>-Fucosidase Clones in a Human Hepatoma cDNA Expression Library

1984 • 74 citations

Characterization of α-L-fucosidase from two different families with fucosidosis

1976 • 61 citations

Fucosidosis type 2.

1976 • 54 citations

GENETIC DEFECTS IN GLYCOPROTEIN METABOLISM

1983 • 52 citations

Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis).

1969 • 47 citations

GENETIC HETEROGENEITY IN FUCOSIDOSIS

1973 • 43 citations

GENETIC HETEROGENEITY IN FUCOSIDOSIS

1973 • 42 citations

Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2

1986 • 36 citations

Silent allele as genetic basis of fucosidosis

1975 • 34 citations

Purification and serological studies of human α-L-fucosidase in the normal and fucosidosis states

1978 • 27 citations

Radioimmunoassay determinations of decreased amounts of α-L-fucosidase protein in fucosidosis

1982 • 27 citations

Intrafamilial variability in fucosidosis

1988 • 27 citations

Human α-fucosidase

1976 • 24 citations

Molecular defect in processing α-fucosidase in fucosidosis

1985 • 24 citations

Molecular Biology of the Alpha-L-Fucosidase Gene and Fucosidosis

1987 • 24 citations

α-L-Fucosidase in Cultured Skin Fibroblasts from Normal Subjects and Fucosidosis Patients

1977 • 21 citations

Assignment of the gene locus for human ?-l-fucosidase to chromosome 1 by analysis of somatic cell hybrids

1978 • 20 citations

Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis.

1988 • 20 citations

PVu II RFLP at the human chromosome 1 alpha-L-fucosidase gene locus (FUCA1)

1986 • 19 citations

Genetic analysis of carbamyl phosphate synthetase I deficiency

1985 • 17 citations

Cranial CT in fucosidosis.

1981 • 17 citations

Absence of ?-fucosidase activity in two sisters showing a different phenotype

1983 • 15 citations

Purification and characterization of α-<scp>l</scp>-fucosidase from the liver of a fucosidosis patient

1980 • 15 citations

Specific activity of ?-l-fucosidase in sera with phenotypes of either low, intermediate, or high total enzyme activity and in a fucosidosis serum

1986 • 13 citations