Mutation analysis in 11 French patients with Fabry disease (Q74127925)

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9 November 2019

title

Mutation analysis in 11 French patients with Fabry disease (English)

1 reference

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9 November 2019

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N Guffon

1

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9 November 2019

R Froissart

series ordinal

2

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9 November 2019

F Chevalier-Porst

series ordinal

3

1 reference

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9 November 2019

I Maire

series ordinal

4

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9 November 2019

publication date

1 January 1998

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9 November 2019

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9 November 2019

volume

Suppl 1

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9 November 2019

page(s)

S288-90

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

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110190

7 January 2021

Mutation analysis in patients with the typical form of Anderson-Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110190

7 January 2021

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110190

7 January 2021

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110190

7 January 2021

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110190

7 January 2021

An atypical variant of Fabry's disease in men with left ventricular hypertrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110190

7 January 2021

A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110190

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380110190

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452111%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

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