(Q67482115)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

title

An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

Shore S

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Tomczak J

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Grebner EE

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

Myerowitz R

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1301958

10 September 2022

publication date

1 January 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

volume

1 reference

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13 September 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

page(s)

486-490

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json

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

13 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010606

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010606

7 January 2021

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010606

7 January 2021

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010606

7 January 2021

Rapid purification of plasmid DNA by a single centrifugation in a two-step cesium chloride-ethidium bromide gradient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010606

7 January 2021

Biochemistry and Genetics of Tay-Sachs Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010606

7 January 2021

A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010606

7 January 2021

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010606

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.1380010606

7 January 2021

cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010606

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.1380010606

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.1380010606

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.1380010606

7 January 2021

Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010606

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010606

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301958%20AND%20SRC:MED&resulttype=core&format=json