Novel Tay-Sachs disease mutations from China (Q28207634)

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10 September 2022

H. P. Shi

2

1 reference

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10 September 2022

G. Vavougios

3

1 reference

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10 September 2022

P. Hechtman

4

1 reference

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10 September 2022

W. Lo

5

1 reference

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10 September 2022

C. R. Scriver

6

1 reference

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10 September 2022

D. Mahuran

7

1 reference

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10 September 2022

F. Kaplan

8

1 reference

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

10 September 2022

language of work or name

English

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publication date

1992

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published in

Human Mutation

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volume

1

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issue

1

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page(s)

40-6

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

Preparation of crude cell extract suitable for amplification of RNA by the polymerase chain reaction.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

CAT constructions with multiple unique restriction sites for the functional analysis of eukaryotic promoters and regulatory elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010107

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010107

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