Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.

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Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.

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http://www.wikidata.org/entity/Q42233423

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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

@zh-cn

name

Inter-familial and intra-famil ...... s with Anderson-Fabry disease.

@en

Inter-familial and intra-famil ...... s with Anderson-Fabry disease.

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type

Item

label

Inter-familial and intra-famil ...... s with Anderson-Fabry disease.

@en

Inter-familial and intra-famil ...... s with Anderson-Fabry disease.

@nl

prefLabel

Inter-familial and intra-famil ...... s with Anderson-Fabry disease.

@en

Inter-familial and intra-famil ...... s with Anderson-Fabry disease.

@nl

P1476

Inter-familial and intra-famil ...... es with Anderson-Fabry disease

@en

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Antonia Nucera

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Antonino Tuttolomondo

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Carmela Zizzo

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Danai Vogiatzis

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Francesca Corpora

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Giovanni Duro

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Irene Simonetta

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Mario Daidone

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Rosaria Pecoraro

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Rosario Scaglione

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P2860

Gene action in the X-chromosome of the mouse (Mus musculus L.)

Neurological complications of Anderson-Fabry disease.

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.

Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.

Genetic screening of Fabry patients with EcoTILLING and HRM technology.

Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

Prevalence of lysosomal storage disorders.

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

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61415-61424

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scholarly article

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10.18632/ONCOTARGET.18250

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English

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P478

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Paolo Colomba

Antonio Pinto

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2017-05-29T00:00:00Z

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28977874

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5617434

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