(Q72234648)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

Ozkara HA

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Akerman BR

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Ciliv G

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Topçu M

4

1 reference

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25 October 2019

Renda Y

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Gravel RA

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

page(s)

186-187

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies

25 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050216

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050216

7 January 2021

Consanguineous marriages in the Turkish population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050216

7 January 2021

Current methods of mutation detection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050216

7 January 2021

The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050216

7 January 2021

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050216

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.1380050216

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.1380050216

7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050216

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.1380050216

7 January 2021

An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050216

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050216

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7749419%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference