(Q72165071)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076951%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076951%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

R Tuteja

1 reference

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24 October 2019

N Tuteja

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076951%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

F Lilliu

1 reference

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24 October 2019

B Bembi

1 reference

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24 October 2019

R Galanello

1 reference

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24 October 2019

A Cao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076951%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

F E Baralle

1 reference

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24 October 2019

publication date

1 September 1994

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24 October 2019

1 reference

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24 October 2019

volume

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24 October 2019

issue

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24 October 2019

page(s)

314-315

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076951%20AND%20SRC:MED&resulttype=core&format=json

Characterization of human glucocerebrosidase from different mutant alleles

24 October 2019

cites work

1 reference

12 December 2020

Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients

1 reference

12 December 2020

Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences

1 reference

12 December 2020

Polymorphisms in the human glucocerebrosidase gene

1 reference

12 December 2020

Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations

1 reference

12 December 2020

1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease

1 reference

12 December 2020

Gaucher disease as a paradigm of current issues regarding single gene mutations of humans

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00208292

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076951%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076951%20AND%20SRC:MED&resulttype=core&format=json