(Q28267948)

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Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame

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Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame (English)

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K A Kretz

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J K Darby

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2

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P J Willems

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3

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J S O'Brien

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4

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language of work or name

English

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publication date

1989

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published in

Journal of Molecular Neuroscience

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volume

1

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issue

3

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page(s)

177-80

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cites work

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

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Crossref

reference URL

https://api.crossref.org/works/10.1007%2FBF02918904

retrieved

21 January 2018

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2642067

retrieved

12 December 2020

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Prenatal diagnosis of fucosidosis

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2642067

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12 December 2020

based on heuristic

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2642067

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12 December 2020

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/2642067

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12 December 2020

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Nonsense mutations in the human beta-globin gene affect mRNA metabolism

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/2642067

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12 December 2020

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/2642067

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12 December 2020

based on heuristic

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2642067

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12 December 2020

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Genetic defects in glycoprotein metabolism

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2642067

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12 December 2020

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

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2642067

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12 December 2020

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DOI

10.1007/BF02918904

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1032216007

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PubMed ID

2642067

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(Q28267948)

Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame

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