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

AuthID
 P-00K-WMJ
11
Author(s)
Pinheiro, A
·
Marques, B
·
Oliveira, A
·
Gaspar, A
·
de Almeida, IT
·
Document Type
Article
Year published
2016
Published
in GENE, ISSN: 0378-1119
Volume: 591, Issue: 2, Pages: 417-424 (8)
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Publication Identifiers
Wos: WOS:000383302300016
Source Identifiers
ISSN: 0378-1119
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