(Q73893361)

7 November 2019

title

Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375921%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9375921

25 November 2024

homozygote

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9375921

25 November 2024

author name string

N. Tayebi

1

1 reference

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25 November 2024

S. R. Cushner

2

1 reference

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25 November 2024

W. Kleijer

3

1 reference

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25 November 2024

E. K. Lau

4

1 reference

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25 November 2024

P. J. Damschroder-Williams

5

1 reference

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25 November 2024

B. K. Stubblefield

6

1 reference

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25 November 2024

J. Den Hollander

7

1 reference

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25 November 2024

E. Sidransky

8

1 reference

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25 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9375921

25 November 2024

publication date

1 November 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375921%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

28 November 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9375921

full work available at URL

25 November 2024

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1096-8628(19971128)73:1%3C41::AID-AJMG9%3E3.0.CO;2-S

1 reference

10.1002/(SICI)1096-8628(19971128)73:1<41::AID-AJMG9>3.0.CO;2-S

DOI

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971128)73:1%3C41::AID-AJMG9%3E3.0.CO;2-S

https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1096-8628(19971128)73:1%3C41::AID-AJMG9%3E3.0.CO;2-S

25 November 2024

1 reference

10.1002/(SICI)1096-8628(19971128)73:1<41::AID-AJMG9>3.0.CO;2-S

DOI

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19971128)73:1%3C41::AID-AJMG9%3E3.0.CO;2-S

American Journal of Medical Genetics Part A

25 November 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375921%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

volume

73

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375921%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375921%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

page(s)

41-47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9375921%20AND%20SRC:MED&resulttype=core&format=json

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

7 November 2019

cites work

1 reference

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Polymorphisms in the human glucocerebrosidase gene

21 January 2018

1 reference

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Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease

21 January 2018

1 reference

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[Congenital Gaucher's disease in erythroblastosis and vascular sclerosis]

21 January 2018

1 reference

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Mutations causing Gaucher disease

21 January 2018

1 reference

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Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

21 January 2018

1 reference

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Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

21 January 2018

1 reference

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Mutation analysis of 28 Gaucher disease patients: the Australasian experience

21 January 2018

1 reference

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Collodion babies with Gaucher's disease--a further case

21 January 2018

1 reference

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Differentiation of beta-glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate

21 January 2018

1 reference

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Differential expression of the human glucocerebrosidase-coding gene

21 January 2018

1 reference

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Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene

21 January 2018

1 reference

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Clinical heterogeneity among patients with Gaucher's disease.

21 January 2018

1 reference

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The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease

21 January 2018

1 reference

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Genotype-phenotype pitfalls in Gaucher disease.

21 January 2018

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Hydrops fetalis associated with Gaucher disease

21 January 2018

1 reference

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Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

21 January 2018

1 reference

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

21 January 2018

1 reference

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