Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

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http://www.wikidata.org/entity/Q50316569

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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name

Spondyloepimetaphyseal dysplas ...... of the mitochondrial disease.

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Spondyloepimetaphyseal dysplas ...... of the mitochondrial disease.

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type

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Spondyloepimetaphyseal dysplas ...... of the mitochondrial disease.

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Spondyloepimetaphyseal dysplas ...... of the mitochondrial disease.

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Spondyloepimetaphyseal dysplas ...... e of the mitochondrial disease

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Spondyloepimetaphyseal dysplas ...... of the mitochondrial disease.

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Spondyloepimetaphyseal dysplas ...... of the mitochondrial disease.

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P1476

Spondyloepimetaphyseal dysplas ...... e of the mitochondrial disease

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P2093

A Kędra

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E Obersztyn

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M Mierzewska-Schmidt

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P Stawiński

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T Biegański

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P2860

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

Exome sequencing identifies the cause of a mendelian disorder

From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy.

The harlequin mouse mutation downregulates apoptosis-inducing factor.

CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

Dissociating the dual roles of apoptosis-inducing factor in maintaining mitochondrial structure and apoptosis

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.

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30-37

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scholarly article

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10.1111/CGE.12792

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English

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2016-06-02T00:00:00Z

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27102849

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