(Q70064396)

English

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

scientific article published on 01 October 1988

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2973311%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

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 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2973311%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

author name string

A Tanaka

1

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8 October 2019

K Ohno

2

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8 October 2019

K Suzuki

3

1 reference

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8 October 2019

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publication date

1 October 1988

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8 October 2019

Biochemical and Biophysical Research Communications

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8 October 2019

156

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8 October 2019

1015-1019

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8 October 2019

2

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8 October 2019

The AB-variant of GM2-gangliosidosis. Clinical, biochemical, and pathological studies of two patients

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2888%2980945-8

7 January 2021

A new variant of type-AB GM2-gangliosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2888%2980945-8

7 January 2021

Mutation in GM2-gangliosidosis B1 variant

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2888%2980945-8

7 January 2021

Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant).

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2888%2980945-8

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/10.1016%2FS0006-291X%2888%2980945-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2888%2980945-8

7 January 2021

Identifiers

10.1016/S0006-291X(88)80945-8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2973311%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2973311%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

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