(Q81508209)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17964840%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17964840%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

B Tappino

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17964840%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

S Regis

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17964840%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

F Corsolini

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17964840%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

M Filocamo

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17964840%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

publication date

26 October 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17964840%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

9 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17964840%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17964840%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17964840%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

page(s)

129-133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17964840%20AND%20SRC:MED&resulttype=core&format=json

Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. II. Enzymatic characterization and identification of the catalytic subunit

9 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Alu repeats and human genomic diversity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Alu repeats and human disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Mutation analysis in the BRCA2 gene in primary breast cancers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Insertion of Alu element responsible for acute intermittent porphyria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

The first reported case of Menkes disease caused by an Alu insertion mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Approach to identification of a point mutation in apo B100 gene by means of a PCR-mediated site-directed mutagenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

ESEfinder: A web resource to identify exonic splicing enhancers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.010

10.1016/J.YMGME.2007.09.010

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17964840%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference