(Q41997082)

English

Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain

scientific article published on August 1990

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain (English)

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

author name string

H Bikker

1

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

F M van den Berg

2

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

R A Wolterman

3

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

W J Kleijer

4

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

J J de Vijlder

5

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

P A Bolhuis

6

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

publication date

1 August 1990

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

85

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

327-329

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

https://scigraph.springernature.com/pub.10.1007/bf00206756

0 references

Localization of the pro-sequence within the total deduced primary structure of human beta-hexosaminidase B

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the structural genes for the ? subunit of hexosaminidase A, mannosephosphate isomerase, and pyruvate kinase to the region q22-qter of human chromosome 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proteolytic processing of the beta-subunit of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemistry and Genetics of gangliosidoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975561

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00206756

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 October 2017

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