Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells-Reference-Cited by-同舟云学术

Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells

Published:2016-10 Issue:2 Volume:591 Page:417-424
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

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

Publisher

Elsevier BV

Subject

Genetics,General Medicine

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4. The sperm specific pyruvate dehydrogenase E1α genes;Dahl,2001

5. Characterization of the regulatory region of the human testis-specific form of the pyruvate dehydrogenase α-subunit (PDHA-2) gene;Datta;Biochim. Biophys. Acta,1999

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