Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family-Reference-Cited by-同舟云学术

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Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family

Published:2016-12 Issue: Volume:9 Page:68-77
ISSN:2352-3409
Container-title:Data in Brief
language:en
Short-container-title:Data in Brief

Author:

Pinheiro Ana,Silva Maria João,Pavlu-Pereira Hana,Florindo Cristina,Barroso Madalena,Marques Bárbara,Correia Hildeberto,Oliveira Anabela,Gaspar Ana,Tavares de Almeida Isabel,Rivera Isabel

Funder

Fundação para a Ciência e a Tecnologia, Portugal (FCT)

Publisher

Elsevier BV

Subject

Multidisciplinary

Reference6 articles.

1. Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: null mutations in PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells;Pinheiro;Gene,2016

2. The pyruvate dehydrogenase complexes: structure-based function and regulation;Patel;J. Biol. Chem.,2014

3. Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity;Pinheiro;Mol. Genet. Metab.,2010

4. Pyruvate dehydrogenase deficiency: identification of a novel mutation in PDHA1 gene which responds to amino acid supplementation;Silva;Eur. J. Pediatr.,2009

5. Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency;Lissens;Hum. Mutat.,1996

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