(Q35247769)

7 August 2017

title

Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis (English)

1 reference

Luigi Luca Cavalli-Sforza

7 August 2017

1 reference

7

object named as

L L Cavalli-Sforza

1 reference

7 August 2017

8

E M Shooter

1 reference

7 August 2017

P J Willems

1

1 reference

7 August 2017

J K Darby

2

1 reference

7 August 2017

R A DiCioccio

3

1 reference

7 August 2017

P Nakashima

4

1 reference

7 August 2017

C Eng

5

1 reference

7 August 2017

K A Kretz

6

1 reference

7 August 2017

J S O'Brien

9

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7 August 2017

language of work or name

English

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publication date

1 November 1988

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

43

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7 August 2017

issue

5

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7 August 2017

page(s)

756-763

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Purification and characterization of alpha-L-fucosidase from the liver of a fucosidosis patient

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

Genetic defects in glycoprotein metabolism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

DNA restriction fragment length polymorphisms and heterozygosity in the human genome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

Letter: Genetic heterogeneity in fucosidosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

Molecular defect in processing alpha-fucosidase in fucosidosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

DNA polymorphism and molecular pathology of the human globin gene clusters

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

Intrafamilial variability in fucosidosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

Molecular biology of the alpha-L-fucosidase gene and fucosidosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

Human alpha-fucosidase. Single residual enzymatic form in fucosidosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715535

12 July 2018

1 reference

12 December 2020

Silent allele as genetic basis of fucosidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Cranial CT in fucosidosis

1 reference

12 December 2020

Radioimmunoassay determination of decreased amounts of alpha-L-fucosidase protein in fucosidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic analysis of carbamyl phosphate synthetase I deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mucopolysaccharidosis by absence of alpha-fucosidase

1 reference

12 December 2020

Deficiency of α-L-Fucosidase

1 reference

12 December 2020

Letter: Genetic heterogeneity in fucosidosis

1 reference

12 December 2020

Identifiers

PMC publication ID

1715535

1 reference

7 August 2017

1 reference