(Q35194963)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213816%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213816%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

author name string

R M Boustany

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213816%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

W H Qian

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213816%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

K Suzuki

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213816%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

language of work or name

English

0 references

publication date

1 October 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213816%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213816%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213816%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213816%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

881-888

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213816%20AND%20SRC:MED&resulttype=core&format=json

Cloning, sequencing, and expression of cDNA for human beta-galactosidase

27 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=1682392

Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682392

Molecular cloning of mouse acid beta-galactosidase cDNA: sequence, expression of catalytic activity and comparison with the human enzyme

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682392

Human beta-galactosidase gene mutations in morquio B disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682392

GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682392

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682392

GM1-gangliosidosis: tandem duplication within exon 3 of β-galactosidase gene in an infantile patient

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682392

Enzymatic diagnosis of sphingolipidoses

28 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8213816

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213816%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference