Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease

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Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease

Author: Elpidorou, Marilena; Poulter, James A.; Szymanska, Katarzyna; Baron, Wia; Junger, Katrin; Boldt, Karsten; Ueffing, Marius; Green, Lydia; Livingston, John H.; Sheridan, Eammon G.; Johnson, Colin A.
Tübinger Autor(en):
Junger, Katrin
Boldt, Karsten
Ueffing, Marius
Published in: European Journal of Human Genetics (2022), Bd. 30, H. 7, S. 860-864
Verlagsangabe: Springernature
Language: English
Full text: http://dx.doi.org/10.1038/s41431-022-01050-9
ISSN: 1018-4813
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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