(Q74590260)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10069717%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Different phenotypic expression in relatives with fabry disease caused by a W226X mutation (English)

1 reference

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11 November 2019

1 reference

I E Knol

1

1 reference

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11 November 2019

M G Ausems

2

1 reference

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11 November 2019

D Lindhout

3

1 reference

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11 November 2019

O P van Diggelen

4

1 reference

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11 November 2019

H Verwey

5

1 reference

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11 November 2019

J Davies

6

1 reference

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11 November 2019

J K Ploos van Amstel

7

1 reference

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11 November 2019

B T Poll-The

8

1 reference

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11 November 2019

publication date

1 February 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10069717%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

11 November 2019

published in

1 reference

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11 November 2019

volume

82

1 reference

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11 November 2019

issue

5

1 reference

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11 November 2019

page(s)

436-439

1 reference

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Identification of Fabry disease in two brothers

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990219%2982%3A5%3C436%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990219%2982%3A5%3C436%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990219%2982%3A5%3C436%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990219%2982%3A5%3C436%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990219%2982%3A5%3C436%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

Letter: Occurrence of celiac sprue in a patient with Fabry's disease

21 January 2018

1 reference

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Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

21 January 2018

1 reference

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Incidence of Coeliac Disease in the West of Ireland

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990219%2982%3A5%3C436%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990219%2982%3A5%3C436%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

Intestinal manifestations of Fabry's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990219%2982%3A5%3C436%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990219%2982%3A5%3C436%3A%3AAID-AJMG14%3E3.0.CO%3B2-X

10.1002/(SICI)1096-8628(19990219)82:5<436::AID-AJMG14>3.0.CO;2-X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10069717%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference