A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

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A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

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2008 nî lūn-bûn

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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name

A novel delins mutation in the ...... isolated vitamin E deficiency.

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A novel delins mutation in the ...... isolated vitamin E deficiency.

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Item

label

A novel delins mutation in the ...... isolated vitamin E deficiency.

@en

A novel delins mutation in the ...... isolated vitamin E deficiency.

@nl

prefLabel

A novel delins mutation in the ...... isolated vitamin E deficiency.

@en

A novel delins mutation in the ...... isolated vitamin E deficiency.

@nl

P1476

A novel delins mutation in the ...... isolated vitamin E deficiency.

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P2093

Dolores Martínez-Rubio

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Esther Piñán-López

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Miguel Fernández-Burriel

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Víctor Pérez-Colosía

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P2860

A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families

Familial hypobetalipoproteinemia: genetics and metabolism

Ataxia caused by mutations in the alpha-tocopherol transfer protein gene

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver.

Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.

P2888

pdr.0b013e31817d9bf7

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262-264

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scholarly article

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10.1203/PDR.0B013E31817D9BF7

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English

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P478

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P50

Carmen Espinós

Francesc Palau

Vincenzo Lupo

P577

2008-09-01T00:00:00Z

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P5875

5393654

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P6179

1020464113

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P698

18458655

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P921

vitamin deficiency

vitamin D deficiency