Clinical Severity of Pgk1 Deficiency Due To a Novel P.e120K Substitution Is Exacerbated by Co-Inheritance of a Subclinical Translocation T(3;14)(Q26.33;Q12), Disrupting Nubpl Gene

AuthID
P-012-48F
8
Author(s)
Almeida, LS
·
Maggi, M
·
Araújo, C
·
Imreh, S
·
Valentini, G
·
Fekete, G
·
Haltrich, I
Tipo de Documento
Book Chapter
Year published
2015
Publicado
in JIMD Reports - JIMD Reports, Volume 23, ISSN: 2192-8304
Páginas: 55-65
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Publication Identifiers
Source Identifiers
ISSN: 2192-8304
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