A large genomic deletion in thePDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element-Reference-Cited by-同舟云学术

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A large genomic deletion in thePDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element

Published:2007 Issue:2 Volume:28 Page:137-142
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Miné Manuèle,Chen Jian-Min,Brivet Michèle,Desguerre Isabelle,Marchant Dominique,de Lonlay Pascale,Bernard Aral,Férec Claude,Abitbol Marc,Ricquier Daniel,Marsac Cécile

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference35 articles.

1. Mutations in PDX1, the Human Lipoyl-Containing Component X of the Pyruvate Dehydrogenase–Complex Gene on Chromosome 11p1, in Congenital Lactic Acidosis

2. L1 integration in a transgenic mouse model

3. LINE-1 RNA splicing and influences on mammalian gene expression

4. El Pyruvate Dehydrogenase Deficiency in a Child with Motor Neuropathy

5. Hot L1s account for the bulk of retrotransposition in the human population

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