(Q35202252)

7 August 2017

title

Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population (English)

1 reference

genetic carrier screening

7 August 2017

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6211091

29 August 2023

author name string

D. A. Greenberg

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6211091

29 August 2023

M. M. Kaback

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6211091

29 August 2023

language of work or name

English

0 references

publication date

1 May 1982

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6211091/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6211091

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6211091/?tool=EBI

29 August 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6211091

https://europepmc.org/articles/PMC1685349

29 August 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6211091

https://europepmc.org/articles/PMC1685349?pdf=render

29 August 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6211091

American Journal of Human Genetics

29 August 2023

published in

1 reference

7 August 2017

volume

34

1 reference

7 August 2017

issue

3

1 reference

7 August 2017

page(s)

444-451

1 reference

Suggestions for a nomenclature for the GM2 gangliosidoses making certain (possibly unwarrantable) assumptions

7 August 2017

cites work

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685349

Characterization of unusual hexosaminidase A (HEX A) deficient human mutants

13 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685349

Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship

13 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685349

Relatives of probands: models for preliminary genetic analysis

13 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/6211091

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

1685349

1 reference

7 August 2017

1 reference