(Q41896259)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

title

The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

0 references

Elpeleg ON

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Anikster Y

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Barash V

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Branski D

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Shaag A

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

language of work or name

English

0 references

publication date

1 August 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

23 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

287-288

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

Gaucher disease: gene frequencies in the Ashkenazi Jewish population

23 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918378

Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918378

Spongy degeneration of the brain in Israel: a retrospective study

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918378

Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918378

N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918378

Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918378

Protracted clinical course for patients with Canavan disease.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918378

18 August 2018

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8037206%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

PubMed publication ID

8037206

1 reference