POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome (Q84689191)

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9 February 2020

title

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome (English)

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9 February 2020

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18 June 2024

author name string

Bénédicte Mousson de Camaret

1

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9 February 2020

Maïté Chassagne

2

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9 February 2020

Martine Mayençon

3

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9 February 2020

Sylvie Padet

4

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9 February 2020

Hervé Crehalet

5

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9 February 2020

Pascale Clerc-Renaud

6

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9 February 2020

Isabelle Rouvet

7

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9 February 2020

Marie-Thérèse Zabot

8

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9 February 2020

François Rivier

9

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9 February 2020

Pierre Sarda

10

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9 February 2020

Vincent des Portes

11

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9 February 2020

Dominique Bozon

12

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9 February 2020

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20691285

18 June 2024

publication date

4 August 2010

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full work available at URL

9 February 2020

https://api.elsevier.com/content/article/PII:S1567724910001406?httpAccept=text/xml

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https://api.crossref.org/works/10.1016/J.MITO.2010.07.011

https://api.elsevier.com/content/article/PII:S1567724910001406?httpAccept=text/plain

18 June 2024

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https://api.crossref.org/works/10.1016/J.MITO.2010.07.011

18 June 2024

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9 February 2020

volume

11

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9 February 2020

issue

1

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9 February 2020

page(s)

223-227

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The accessory subunit of Xenopus laevis mitochondrial DNA polymerase gamma increases processivity of the catalytic subunit of human DNA polymerase gamma and is related to class II aminoacyl-tRNA synthetases

9 February 2020

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The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

18 June 2024

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Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.

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Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders

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

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Identifiers

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9 February 2020

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