Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

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Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

Author: Braunisch, M. C.; Gallwitz, H.; Abicht, A.; Diebold, I.; Holinski-Feder, E.; Van Maldergem, L.; Lammens, M.; Kovacs-Nagy, R.; Alhaddad, B.; Strom, T. M.; Meitinger, T.; Senderek, J.; Rudnik-Schoeneborn, S.; Haack, T. B.
Tübinger Autor(en):
Haack, Tobias
Published in: Clinical Genetics (2018), Bd. 93, H. 2, S. 255-265
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1111/cge.13084
ISSN: 1399-0004
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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