(Q52006291)

English

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

scientific article published in November 1996

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8950198

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype. (English)

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8950198

Sandhoff disease

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

I Redonnet-Vernhet

1

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8950198

D J Mahuran

2

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8950198

R Salvayre

3

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8950198

F Dubas

4

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8950198

T Levade

5

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8950198

publication date

1 November 1996

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8950198

Biochimica et Biophysica Acta

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8950198

1317

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8950198

2

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8950198

127-133

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8950198

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Validity of lymphoid cell line for enzymatic studies of GM2-gangliosidosis variant 0 (Sandhoff disease).

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular Forms of beta-N-Acetylhexosaminidase in Epstein-Barr Virus-Transformed Lymphoid Cell Lines from Normal Subjects and Patients with Tay-Sachs Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Modification of enzymatically amplified DNA for the detection of point mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2896%2900044-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0925-4439(96)00044-0

1 reference

https://api.fatcat.wiki/v0/release/niv33aztmzf5dizkzxsndxxe6q

30 July 2022

based on heuristic

mapped directly with Wikidata item

release_niv33aztmzf5dizkzxsndxxe6q

1 reference

https://api.fatcat.wiki/v0/release/niv33aztmzf5dizkzxsndxxe6q

30 July 2022

based on heuristic

mapped directly with Wikidata item

1 reference

https://api.fatcat.wiki/v0/release/niv33aztmzf5dizkzxsndxxe6q

30 July 2022

based on heuristic

mapped directly with Wikidata item

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q52006291&oldid=2041788531"