Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

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Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.

P2860

Q30248334-C1983941-465B-4216-B3D1-240610B2DAA6 Q50347029-660AFA45-5799-4C98-B5FE-1FBE557208C8

P2860

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

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http://www.wikidata.org/entity/Q42018225

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2011 nî lūn-bûn

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2011年の論文

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2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

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2011年论文

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2011年论文

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2011年论文

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name

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

@en

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

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type

Item

label

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

@en

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

@nl

prefLabel

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

@en

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

@nl

P1476

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

@en

P2093

Antal Nemeth

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

Helene Bruhn

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

Inger Nennesmo

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

Karin Naess

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

Michela Barbaro

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

Nicole Lesko

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

Rolf Wibom

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

Ulrika von Döbeln

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P2860

Functional human mitochondrial DNA polymerase gamma forms a heterotrimer

Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations

Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Mitochondrial myopathies.

Consequences of mutations in human DNA polymerase gamma.

Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a review.

De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.

P304

67-73

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P31

scholarly article

case report

P356

10.1007/8904_2011_73

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P478

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

P50

Nils-Göran Larsson

P577

2011-10-20T00:00:00Z

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P698

23430898

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P932

3509876

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Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

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P2860

P2860

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P932