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
Document Type
Book Chapter
Year published
2015
Published
in JIMD Reports - JIMD Reports, Volume 23, ISSN: 2192-8304
Pages: 55-65
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ISSN: 2192-8304
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