Molecular genetics of Tay-Sachs disease in Japan (Q44307290)

1 December 2017

title

Molecular genetics of Tay-Sachs disease in Japan (English)

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1 December 2017

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A Tanaka

1

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1 December 2017

H Sakazaki

2

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H Murakami

3

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G Isshiki

4

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K Suzuki

5

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publication date

1 January 1994

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Journal of Inherited Metabolic Disease

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published in

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1 December 2017

volume

17

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issue

5

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1 December 2017

page(s)

593-600

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https://scigraph.springernature.com/pub.10.1007/bf00711597

1 December 2017

exact match

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cites work

Mutation in GM2-gangliosidosis B1 variant

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12 December 2020

Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase

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12 December 2020

Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain

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12 December 2020

Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein

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12 December 2020

Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.

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12 December 2020

A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB

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12 December 2020

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase

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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

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12 December 2020

The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene

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12 December 2020

GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient

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12 December 2020

Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Organization of the gene encoding the human beta-hexosaminidase alpha-chain

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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

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12 December 2020

A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease

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12 December 2020

Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients

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12 December 2020

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

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12 December 2020

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

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12 December 2020

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients

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12 December 2020

Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

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12 December 2020

Identifiers

DOI

10.1007/BF00711597

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1 December 2017

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