A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration.

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A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration.

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http://www.wikidata.org/entity/Q38868041

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

A Novel Nonsense Mutation in P ...... -Associated Neurodegeneration.

@en

type

Item

label

A Novel Nonsense Mutation in P ...... -Associated Neurodegeneration.

@en

prefLabel

A Novel Nonsense Mutation in P ...... -Associated Neurodegeneration.

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P1476

A Novel Nonsense Mutation in P ...... -Associated Neurodegeneration.

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P2093

Alireza Rezayi

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Feyzollah Hashemi-Gorji

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Mohammad Miryounesi

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Nasrin Alipour

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Soudeh Ghafouri-Fard

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Vahid Reza Yassaee

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P2860

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

Pantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblings

Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

A novel PANK2 gene mutation in a Persian boy: the first report from Iran.

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review.

P304

255-259

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P31

scholarly article

case report

P433

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P478

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P577

2016-10-23T00:00:00Z

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P698

28357202

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P921

pantothenate kinase-associated neurodegeneration

P932

5353987

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