(Q24678854)

English

A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients

scientific article published on June 1, 1991

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Statements

scholarly article

0 references

A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients (English)

0 references

Tay-Sachs disease

1 reference

based on heuristic

inferred from title

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1827945

4 December 2022

author name string

E. H. Mules

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1827945

4 December 2022

C. E. Dowling

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1827945

4 December 2022

M. B. Petersen

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1827945

4 December 2022

H. H. Kazazian

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1827945

4 December 2022

G. H. Thomas

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1827945

4 December 2022

language of work or name

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publication date

June 1991

0 references

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1827945/?tool=EBI

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1827945

4 December 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1827945/pdf/?tool=EBI

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1827945

4 December 2022

https://europepmc.org/articles/PMC1683116

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1827945

4 December 2022

https://europepmc.org/articles/PMC1683116?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1827945

4 December 2022

American Journal of Human Genetics

0 references

48

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6

0 references

1181-5

0 references

Chromosomal protein HMG-14. Identification, characterization, and chromosome localization of a functional gene from the large human multigene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683116

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683116

7 April 2017

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683116

28 September 2017

Hypervariabflity of simple sequences as a general source for polymorphic DNA markers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683116

28 September 2017

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683116

28 September 2017

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683116

28 September 2017

Polymerase chain reaction-generated heteroduplexes from Ashkenazi Tay-Sachs carriers with an insertion mutation can be detected on agarose gels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683116

28 November 2018

Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/1827945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat

1 reference

https://pubmed.ncbi.nlm.nih.gov/1827945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1827945

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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