*Result*: Identification and characterization of a novel splice site mutation associated with glycogen storage disease type VI in two unrelated turkish families

*Title*:
Identification and characterization of a novel splice site mutation associated with glycogen storage disease type VI in two unrelated turkish families
*Author/editor-in-chief*:
Grünert, Sarah (Verfasser) ; Hannibal, Luciana (Verfasser) ; Schumann, Anke (Verfasser) ; Rosenbaum-Fabian, Stefanie (Verfasser) ; Beck-Wödl, Stefanie (Verfasser); Haack, Tobias (Verfasser) ; Grimmel, Mona (Verfasser); Bertrand, Miriam (Verfasser); Spiekerkötter, Ute (Verfasser) 
*Publication*:
Freiburg : Universität, 2021
*Physical description scale*:
1 Online-Ressource
*Format*:
*eBook*
*Language*:
*eng*
*Notes*:
Diagnostics. - 11, 3 (2021) , 500, ISSN: 2075-4418
*DOI*:
10.3390/diagnostics11030500

*Additional information*

*Additional functions*