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- 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
- Title:
- NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
- 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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