Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

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Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

Author: Grunert, Sarah C.; Hannibal, Luciana; Schumann, Anke; Rosenbaum-Fabian, Stefanie; Beck-Wodl, Stefanie; Haack, Tobias B.; Grimmel, Mona; Bertrand, Miriam; Spiekerkoetter, Ute
Tübinger Autor(en):
Beck-Wödl, Stefanie
Grimmel, Mona
Bertrand, Miriam
Haack, Tobias
Published in: Diagnostics (2021), Bd. 11 (3), Article 500
Verlagsangabe: Mdpi
Language: English
Full text: http://dx.doi.org/10.3390/diagnostics11030500
ISSN: 2075-4418
DDC Classifikation: 610 - Medicine and health
Dokumentart: Article
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