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)
Silva, MJ
·
Pavlu Pereira, H
·
Florindo, C
·
Barroso, M
·
Marques, B
·
Correia, H
·
Oliveira, A
·
Gaspar, A
·
Document Type
Article
Year published
2016
Published
in GENE, ISSN: 0378-1119
Volume: 591, Issue: 2, Pages: 417-424 (8)
Indexing
Wos®
Scopus®
Crossref®
Pubmed®
Google Scholar®
Publication Identifiers
Pubmed: 27343776
SCOPUS: 2-s2.0-84979686924
Wos: WOS:000383302300016
Source Identifiers
ISSN: 0378-1119
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