(Q77694780)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9856561%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

review article

1 reference

title

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation (English)

1 reference

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7 December 2019

0 references

1 reference

1

1 reference

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7 December 2019

D Grinberg

9

1 reference

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7 December 2019

author name string

T L Harboe

2

1 reference

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7 December 2019

L Gort

3

1 reference

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7 December 2019

C Campoy

4

1 reference

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7 December 2019

M Blanco

5

1 reference

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7 December 2019

N Chamoles

6

1 reference

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7 December 2019

A Chabás

7

1 reference

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7 December 2019

L Vilageliu

8

1 reference

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7 December 2019

publication date

1 December 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9856561%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

7 December 2019

published in

1 reference

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7 December 2019

volume

80

1 reference

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7 December 2019

issue

4

1 reference

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7 December 2019

page(s)

343-351

1 reference

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Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

7 December 2019

cites work

1 reference

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21 January 2018

1 reference

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Two new Gaucher disease mutations

21 January 2018

1 reference

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Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state

21 January 2018

1 reference

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Polymorphisms in the human glucocerebrosidase gene

21 January 2018

1 reference

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Five new Gaucher disease mutations

21 January 2018

1 reference

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Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

21 January 2018

1 reference

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Gaucher disease in Spanish patients: Analysis of eight mutations

21 January 2018

1 reference

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Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

The human glucocerebrosidase gene and pseudogene: structure and evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Mutation analysis of 28 Gaucher disease patients: the Australasian experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Mutation analysis of Australasian Gaucher disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981204%2980%3A4%3C343%3A%3AAID-AJMG8%3E3.0.CO%3B2-W

10.1002/(SICI)1096-8628(19981204)80:4<343::AID-AJMG8>3.0.CO;2-W

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9856561%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference