Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient (Q46174989)

20 December 2017

title

Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient (English)

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20 December 2017

main subject

aspartylglucosaminuria

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Fisher KJ

1

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20 December 2017

Aronson NN Jr

series ordinal

2

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20 December 2017

language of work or name

English

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publication date

1 August 1991

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20 December 2017

published in

FEBS Letters

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20 December 2017

volume

288

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20 December 2017

issue

1-2

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20 December 2017

page(s)

173-178

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20 December 2017

Aspartylglycosaminuria: an inborn error of glycoprotein catabolism

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1 reference

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Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase

21 January 2018

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Aspartylglucosaminuria in the United States

21 January 2018

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Genomic structure of human lysosomal glycosylasparaginase

21 January 2018

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Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda

21 January 2018

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Identification of an altered splice site in Ashkenazi Tay-Sachs disease

21 January 2018

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Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

21 January 2018

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A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

21 January 2018

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Rat liver chitobiase: purification, properties, and role in the lysosomal degradation of Asn-linked glycoproteins

21 January 2018

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Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells

21 January 2018

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Cloning and sequence analysis of a cDNA for human glycosylasparaginase

21 January 2018

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Use of eukaryotic expression technology in the functional analysis of cloned genes

21 January 2018

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Immunocytochemistry of lysosomal hydrolases and their precursor forms in normal and mutant human cells

21 January 2018

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21 January 2018

Identifiers

DOI

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20 December 2017

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20 December 2017