Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

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Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

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http://www.wikidata.org/entity/Q48088822

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2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

Novel De Novo KCND3 Mutation i ...... axia, Myoclonus, and Dystonia.

@en

Novel De Novo KCND3 Mutation i ...... axia, Myoclonus, and Dystonia.

@nl

type

Item

label

Novel De Novo KCND3 Mutation i ...... axia, Myoclonus, and Dystonia.

@en

Novel De Novo KCND3 Mutation i ...... axia, Myoclonus, and Dystonia.

@nl

prefLabel

Novel De Novo KCND3 Mutation i ...... axia, Myoclonus, and Dystonia.

@en

Novel De Novo KCND3 Mutation i ...... axia, Myoclonus, and Dystonia.

@nl

P1476

Novel De Novo KCND3 Mutation i ...... taxia, Myoclonus, and Dystonia

@en

P2093

Jun Mitsui

http://www.w3.org/2001/XMLSchema#string

Jun Shimizu

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Jun Yoshimura

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Juntaro Kaneko

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Juuri Otsuka

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Kazutoshi Nishiyama

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Koichiro Doi

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Shinichi Morishita

http://www.w3.org/2001/XMLSchema#string

Shoji Tsuji

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Takashi Matsukawa

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P2860

Fast and accurate short read alignment with Burrows-Wheeler transform

The Sequence Alignment/Map format and SAMtools

Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(TO) and I(SA)

Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner

Mutations in KCND3 cause spinocerebellar ataxia type 22.

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

alpha-helical structural elements within the voltage-sensing domains of a K(+) channel.

A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

P2888

s12311-017-0883-4

P304

237-242

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scholarly article

P356

10.1007/S12311-017-0883-4

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

Hiroyuki Ishiura

Masanori Kurihara

P577

2018-04-01T00:00:00Z

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P698

28895081

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