Fabry disease due to D313Y and novel GLA mutations.

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Fabry disease due to D313Y and novel GLA mutations.

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2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

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name

Fabry disease due to D313Y and novel GLA mutations.

@en

Fabry disease due to D313Y and novel GLA mutations.

@nl

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Item

label

Fabry disease due to D313Y and novel GLA mutations.

@en

Fabry disease due to D313Y and novel GLA mutations.

@nl

prefLabel

Fabry disease due to D313Y and novel GLA mutations.

@en

Fabry disease due to D313Y and novel GLA mutations.

@nl

P1476

Fabry disease due to D313Y and novel GLA mutations.

@en

P2093

Alexandra Ouzouni

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Anastasios E Germenis

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Christos Katsinas

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Eleni Manou

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Gedeon Loules

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John Kyriazis

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Konstantinos Koulousios

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Maria Zamanakou

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Matthaios Speletas

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Panagiotis Pateinakis

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P2860

An integrated map of genetic variation from 1,092 human genomes

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

Multifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A gene

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

Frequency of Fabry disease in male and female haemodialysis patients in Spain.

Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.

P304

e017098

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P31

scholarly article

P356

10.1136/BMJOPEN-2017-017098

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

Kostas Stylianou

P577

2017-10-06T00:00:00Z

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P698

28988177

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P932

5640077

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