(Q72094342)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045559%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045559%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

0 references

1 reference

Y Hara

1

1 reference

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23 October 2019

P Ioannou

2

1 reference

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23 October 2019

A Drousiotou

3

1 reference

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23 October 2019

G Stylianidou

4

1 reference

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23 October 2019

V Anastasiadou

5

1 reference

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23 October 2019

K Suzuki

6

1 reference

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23 October 2019

publication date

1 August 1994

1 reference

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23 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045559%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

94

1 reference

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23 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045559%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

136-140

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045559%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00202858

23 October 2019

exact match

0 references

cites work

Biochemical and Molecular Aspects of Late-Onset GM2-Gangliosidosis: B1 Variant as a Prototype

1 reference

12 December 2020

Molecular and clinical heterogeneity of adult GM2 gangliosidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

1 reference

12 December 2020

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

1 reference

12 December 2020

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase

1 reference

12 December 2020

Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes

1 reference

12 December 2020

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal

1 reference

12 December 2020

Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00202858

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8045559%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference