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

No abstract is available for this paper.

• Publication year

  1988

• Venue

  American Journal of Human Genetics

• Publication date

  1988-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  PMID 2903668PMCID PMC1715535
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Fucosidosis

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• DNA restriction fragment length polymorphisms and heterozygosity in the human genome

  2004cited by this paper
• Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis.

  1988cited by this paper
• Intrafamilial variability in fucosidosis

  1988cited by this paper
• Molecular biology of the alpha-L-fucosidase gene and fucosidosis.

  1987cited by this paper
• Specific activity of α-l-fucosidase in sera with phenotypes of either low, intermediate, or high total enzyme activity and in a fucosidosis serum

  1986cited by this paper
• Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

  1986cited by this paper
• Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2.

  1986cited by this paper
• Pvu II RFLP at the human chromosome 1 alpha-L-fucosidase gene locus (FUCA1).

  1986cited by this paper
• Molecular defect in processing alpha-fucosidase in fucosidosis.

  1985cited by this paper
• Molecular cloning of a cDNA for human alpha-L-fucosidase.

  1985cited by this paper
• Molecular defect in processing α-fucosidase in fucosidosis

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• Genetic analysis of carbamyl phosphate synthetase I deficiency

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

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• Chromogenic Immuno detection of Human Serum Albumin and α-l-Fucosidase Clones in a Human Hepatoma cDNA Expression Library

  1984cited by this paper
• Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library.

  1984cited by this paper
• Genetic defects in glycoprotein metabolism.

  1983cited by this paper
• Absence of alpha-fucosidase activity in two sisters showing a different phenotype.

  1983cited by this paper
• Radioimmunoassay determination of decreased amounts of alpha-L-fucosidase protein in fucosidosis.

  1982cited by this paper
• Cranial CT in fucosidosis.

  1981cited by this paper
• Purification and characterization of α-l-fucosidase from the liver of a fucosidosis patient

  1980influential reference
• Purification and characterization of alpha-L-fucosidase from the liver of a fucosidosis patient.

  1980cited by this paper
• Assignment of the gene locus for human α-l-fucosidase to chromosome 1 by analysis of somatic cell hybrids

  1978cited by this paper
• Purification and serological studies of human alpha-L-fucosidase in the normal and fucosidosis states.

  1978cited by this paper
• α-L-Fucosidase in Cultured Skin Fibroblasts from Normal Subjects and Fucosidosis Patients

  1977cited by this paper
• Characterization of alpha-L-fucosidase from two different families with fucosidosis.

  1976cited by this paper
• Fucosidosis type 2.

  1976cited by this paper
• Human alpha-fucosidase. Single residual enzymatic form in fucosidosis.

  1976cited by this paper
• A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.

  1976cited by this paper
• Human α-fucosidase: Single residual enzymatic form in fucosidosis

  1976cited by this paper
• Characterization of α-L-fucosidase from two different families with fucosidosis

  1976cited by this paper
• Silent allele as genetic basis of fucosidosis

  1975cited by this paper
• Letter: Genetic heterogeneity in fucosidosis.

  1973cited by this paper
• Letter: Genetic heterogeneity in fucosidosis.

  1973cited by this paper
• GENETIC HETEROGENEITY IN FUCOSIDOSIS

  1973cited by this paper
• Deficiency of α-L-Fucosidase

  1972cited by this paper
• Deficiency of alpha-L-fucosidase.

  1972cited by this paper
• Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis).

  1969cited by this paper
• Fucosidosis.

  1969cited by this paper
• Genetic heterogeneity.

  1968cited by this paper
• Mucopolysaccharidosis by absence of alpha-fucosidase.

  1968cited by this paper
• MUCOPOLYSACCHARIDOSIS BY ABSENCE OF α-FUCOSIDASE

  1968cited by this paper

• Recovery of α-L-fucosidase in fucosidosis nonsense variants by readthrough stimulation and release factor degradation

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• The Identification of a Novel Fucosidosis-Associated FUCA1 Mutation: A Case of a 5-Year-Old Polish Girl with Two Additional Rare Chromosomal Aberrations and Affected DNA Methylation Patterns

  2021cites this paper
• Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report

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• A novel homozygous frameshift mutation in the FUCA1 gene causes both severe and mild fucosidosis

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  2010cites this paper
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• 3.09 – Degradation of Glycoproteins

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• Spectrum of mutations in fucosidosis

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• Fukosidose bei zwei deutschen Patienten Klinik und Molekulargenetik

  1998cites this paper
• The molecular defect underlying canine fucosidosis.

  1996cites this paper
• Isolation of the canine α-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels

  1996cites this paper
• Mutations in fucosidosis gene: a review.

  1995cites this paper
• Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease.

  1995cites this paper
• Peptide mapping of the subunits and deglycosylated polypeptides of human liver alpha-L-fucosidase.

  1994cites this paper
• Genetically polymorphic alpha-L-fucosidase (FUCA1) isozymes detected in blood plasma.

  1994cites this paper
• A missense mutation (G197→A) in theα-l-fucosidase gene of fucosidosis patients leads to loss ofα-l-fucosidase

  1994cites this paper
• A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.

  1994cites this paper
• A single‐base deletion mutation in a Turkish patient with fucosidosis

  1994influential citation
• Genetically polymorphic α-l-fucosidase (FUCA1) isozymes detected in blood plasma

  1994cites this paper
• Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.

  1993cites this paper
• Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.

  1993cites this paper
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• Fucosidosis: four new mutations and a new polymorphism.

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  1992cites this paper
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  1990cites this paper
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  1990cites this paper
• Metabolic correction of fucosidosis lymphoid cells by galaptin-alpha-L-fucosidase conjugates.

  1990cites this paper
• Report of the committee on clinical disorders and chromosomal deletion syndromes.

  1989cites this paper
• Report of the committee on the genetic constitution of chromosome 1.

  1989cites this paper
• Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients.

  1989cites this paper
• Abnormal expression ofα-L-fucosidase in lymphoid cell lines of fucosidosis patients

  1989cites this paper
• Heterogeneity of mRNA expression in Italian fucosidosis patients

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  1989cites this paper
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  1988cites this paper
• Intrafamilial variability in fucosidosis

  1988cites this paper
• Neuroradiologic findings in fucosidosis, a rare

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