Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

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Genetic Variants Associated with Episodic Ataxia in Korea.

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Q46136196-86DCC2CC-CA68-4936-92C5-F6D4CD49285F

P2860

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

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Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

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Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

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Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

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P1476

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

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P2093

Alfons Macaya

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Carles Roig

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Cèlia Sintas

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Ester Cuenca-León

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Isabel Barroeta

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Oriel Carreño

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Roser Corominas

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Víctor Volpini

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P2860

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

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Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.

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A simple salting out procedure for extracting DNA from human nucleated cells

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene

A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit

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s41598-017-02554-x

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scholarly article

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10.1038/S41598-017-02554-X

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English

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P478

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Bru Cormand

Noèlia Fernàndez-Castillo

Claudio Toma

Marta Vila-Pueyo

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2017-05-31T00:00:00Z

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1085634113

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28566750

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5451382

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Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

about

P2860

P2860

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P6179

P698

P932