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Title:
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
Document type:
Zeitschriftenaufsatz
Author(s):
Kremer, Laura S.; Danhauser, Katharina; Herebian, Diran; Petkovic Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Seibt, Annette; Müller-Felber, Wolfgang; Haack, Tobias B.; Płoski, Rafał; Lohmeier, Klaus; Schneider, Dominik; Klee, Dirk; Rokicki, Dariusz; Mayatepek, Ertan; Strom, Tim M.; Meitinger, Thomas; Klopstock, Thomas; Pronicka, Ewa; Mayr, Johannes A.; Baric, Ivo; Distelmaier, Felix; Prokisch, Holger
Journal title:
The American Journal of Human Genetics
Year:
2016
Journal volume:
99
Journal issue:
4
Pages contribution:
894-902
Fulltext / DOI:
doi:10.1016/j.ajhg.2016.07.018
Publisher:
Elsevier BV
E-ISSN:
0002-9297
Date of publication:
01.10.2016
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mediaTUM Gesamtbestand
Open Access Publikationen
2016