Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

Morava, Eva; Schatz, Ulrich A.; Torring, Pernille M.; Abbott, Mary-Alice; Baumann, Matthias; Brasch-Andersen, Charlotte; Chevalier, Nathalie; Dunkhase-Heinl, Ulrike; Fleger, Martin; Haack, Tobias B.; Nelson, Stephen; Potelle, Sven; Radenkovic, Silvia; Bommer, Guido T.; Van Schaftingen, Emile; Veiga-da-Cunha, Maria

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Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

Author:

Morava, Eva; Schatz, Ulrich A.; Torring, Pernille M.; Abbott, Mary-Alice; Baumann, Matthias; Brasch-Andersen, Charlotte; Chevalier, Nathalie; Dunkhase-Heinl, Ulrike; Fleger, Martin; Haack, Tobias B.; Nelson, Stephen; Potelle, Sven; Radenkovic, Silvia; Bommer, Guido T.; Van Schaftingen, Emile; Veiga-da-Cunha, Maria

Tübinger Autor(en):

Haack, Tobias

Published in:

American Journal of Human Genetics (2021), Bd. 108, H. 6, S. 1151-1160

Verlagsangabe:

Cell Press

Language:

English

Full text:

http://dx.doi.org/10.1016/j.ajhg.2021.04.017

ISSN:

1537-6605