Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

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A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.

P2860

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Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

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name

Intra-individual plasticity of ...... n siblings with Barth syndrome

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Intra-individual plasticity of ...... n siblings with Barth syndrome

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label

Intra-individual plasticity of ...... n siblings with Barth syndrome

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Intra-individual plasticity of ...... n siblings with Barth syndrome

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Intra-individual plasticity of ...... n siblings with Barth syndrome

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Intra-individual plasticity of ...... n siblings with Barth syndrome

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P1476

Intra-individual plasticity of ...... n siblings with Barth syndrome

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Catia Cavicchi

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David N Cooper

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Federica Natacci

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Frédéric M Vaz

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Luigina Spaccini

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Maria A Donati

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Renzo Guerrini

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Serena Gasperini

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Silvia Funghini

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P2860

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

Formation of molecular species of mitochondrial cardiolipin. 1. A novel transacylation mechanism to shuttle fatty acids between sn-1 and sn-2 positions of multiple phospholipid species

Barth syndrome.

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

The enigmatic role of tafazzin in cardiolipin metabolism

A novel X-linked gene, G4.5. is responsible for Barth syndrome

The biosynthesis and functional role of cardiolipin

Multiple mutation in an extended Duchenne muscular dystrophy family.

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.

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ejhg.2015.50

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1708-1712

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scholarly article

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10.1038/EJHG.2015.50

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2015-03-18T00:00:00Z

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273786419

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25782672

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P921

sibling

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4795190

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Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

about

P2860

P2860

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P932