(Q82237849)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21036086%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event (English)

1 reference

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15 January 2020

4

1 reference

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15 January 2020

D Grinberg

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21036086%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Monica Cozar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21036086%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Bruno Bembi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21036086%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Silvia Dominissini

3

1 reference

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15 January 2020

Lluisa Vilageliu

5

1 reference

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15 January 2020

Andrea Dardis

7

1 reference

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15 January 2020

publication date

29 October 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21036086%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

15 January 2020

published in

1 reference

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15 January 2020

volume

102

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15 January 2020

page(s)

226-228

1 reference

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15 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21036086%20AND%20SRC:MED&resulttype=core&format=json

The human glucocerebrosidase gene and pseudogene: structure and evolution

15 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.004

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.004

Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.004

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.2010.10.004

Standardizing mutation nomenclature: why bother?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.004

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.004

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.004

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.004

Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.004

10.1016/J.YMGME.2010.10.004

7 January 2021

Identifiers

DOI

1 reference

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15 January 2020

1 reference