(Q43778943)

English

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

scientific article published in May 1988

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

author name string

Ohno K

1

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Europe PubMed Central

PubMed publication ID

26 November 2017

Suzuki K

2

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Europe PubMed Central

PubMed publication ID

26 November 2017

language of work or name

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publication date

1 May 1988

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Europe PubMed Central

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26 November 2017

Biochemical and Biophysical Research Communications

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Europe PubMed Central

PubMed publication ID

26 November 2017

153

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Europe PubMed Central

PubMed publication ID

26 November 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

463-469

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2888%2981247-6

7 January 2021

Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2888%2981247-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2888%2981247-6

7 January 2021

Mutation in GM2-gangliosidosis B1 variant

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2888%2981247-6

7 January 2021

Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2888%2981247-6

7 January 2021

A simple and very efficient method for generating cDNA libraries

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2888%2981247-6

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2888%2981247-6

7 January 2021

Identifiers

10.1016/S0006-291X(88)81247-6

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

release_vrbsogyzgzdm5aj4klbahqnt7i

1 reference

https://api.fatcat.wiki/v0/release/vrbsogyzgzdm5aj4klbahqnt7i

24 November 2022

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 November 2017

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