Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

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P1476

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

@en

P2093

Ans M W van den Ouweland

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Conxita Escofet

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Galhana M Bolman

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Grace Yoon

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Miriam Guitart

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Peter Elfferich

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Raoul van de Graaf

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Rick van Minkelen

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Robert van der Helm

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P2860

The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates

Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends

Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein

Aprataxin, a novel protein that protects against genotoxic stress

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1

Phenotypic variability of aprataxin gene mutations

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

P2888

s12881-015-0213-y

P304

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P31

scholarly article

case report

P356

10.1186/S12881-015-0213-Y

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P478

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P577

2015-08-19T00:00:00Z

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281813091

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P6179

1039799163

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P698

26285866

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P921

ataxia with oculomotor apraxia type 1

P932

4593195

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