(Q77477085)

English

A frequent TG deletion near the polyadenylation signal of the human HEXB gene: occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3' untranslated region

scientific article published on 01 January 1998

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scholarly article

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5 December 2019

A frequent TG deletion near the polyadenylation signal of the human HEXB gene: occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3' untranslated region (English)

1 reference

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5 December 2019

author name string

Kleiman FE

1

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5 December 2019

Ramírez AO

2

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5 December 2019

Dodelson de Kremer R

3

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5 December 2019

Gravel RA

4

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5 December 2019

Argaraña CE

5

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publication date

1 January 1998

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5 December 2019

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5 December 2019

12

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5 December 2019

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320-329

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5 December 2019

Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease

1 reference

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21 January 2018

Identification of beta-N-acetylhexosaminidase A in mouse tissues with the fluorigenic substrate 4-methylumbelliferyl-beta-N-acetylglucosamine 6-sulphate

1 reference

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21 January 2018

Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease

1 reference

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21 January 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

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21 January 2018

Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection

1 reference

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21 January 2018

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

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21 January 2018

Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease

1 reference

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21 January 2018

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds

1 reference

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21 January 2018

Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase (HPRT) gene deletions

1 reference

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21 January 2018

Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A5%3C320%3A%3AAID-HUMU5%3E3.0.CO%3B2-H

21 January 2018

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease

1 reference

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21 January 2018

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

1 reference

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21 January 2018

Quantitative titration of nucleic acids by enzymatic amplification reactions run to saturation

1 reference

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21 January 2018

Isolation of novel murine maternal mRNAs regulated by cytoplasmic polyadenylation

1 reference

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21 January 2018

DNA sequencing with chain-terminating inhibitors

1 reference

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21 January 2018

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

1 reference

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21 January 2018

Characterization of the murine beta-hexosaminidase (HEXB) gene

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A5%3C320%3A%3AAID-HUMU5%3E3.0.CO%3B2-H

21 January 2018

Elements upstream of the AAUAAA within the human immunodeficiency virus polyadenylation signal are required for efficient polyadenylation in vitro

1 reference

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21 January 2018

Structural organization, sequence, and expression of the mouse HEXA gene encoding the alpha subunit of hexosaminidase A.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A5%3C320%3A%3AAID-HUMU5%3E3.0.CO%3B2-H

21 January 2018

Diagnosis and characterization of GM 2 gangliosidosis type II (Sandhoff disease) by analysis of the accumulating N-acetyl-glucosaminyl oligosaccharides with high performance liquid chromatography.

1 reference

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21 January 2018

Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.

1 reference

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21 January 2018

Identifiers

10.1002/(SICI)1098-1004(1998)12:5<320::AID-HUMU5>3.0.CO;2-H

0 references

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792408%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

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