A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family (Q28115455)

GOA release 2020-03-11

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4

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6 June 2020

Xingshun Xu

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6 June 2020

author name string

Wei Ge

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6 June 2020

Bin Wei

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6 June 2020

Hao Zhu

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6 June 2020

Weimin Zhang

5

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6 June 2020

Cuihua Leng

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6 June 2020

Jizhen Li

7

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Dan Zhang

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6 June 2020

Miao Sun

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International Journal of Neuroscience

6 June 2020

publication date

3 June 2016

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3 January 2017

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6 June 2020

volume

127

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6 June 2020

issue

5

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6 June 2020

page(s)

448-453

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Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

6 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1080/00207454.2016.1191483

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

21 April 2017

1 reference

https://api.crossref.org/works/10.1080/00207454.2016.1191483

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

21 April 2017

1 reference

https://api.crossref.org/works/10.1080%2F00207454.2016.1191483

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00207454.2016.1191483

High incidence of later-onset fabry disease revealed by newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00207454.2016.1191483

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00207454.2016.1191483

Quantification of α-galactosidase activity in intact leukocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00207454.2016.1191483

Altering 5-hydroxymethylcytosine modification impacts ischemic brain injury

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00207454.2016.1191483

Characterization of pain in fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00207454.2016.1191483

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00207454.2016.1191483

Erythromelalgia: a hereditary pain syndrome enters the molecular era.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00207454.2016.1191483

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00207454.2016.1191483

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F00207454.2016.1191483

10.1080/00207454.2016.1191483

21 January 2018

Identifiers

DOI

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27211852%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

2 references

3 January 2017