Recessive loss-of-function mutations in AP4S1 cause mild...

Human Molecular Genetics 2015 / 04 Vol. 24; Iss. 8

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Hardies, K., May, P., Djemie, T., Tarta-Arsene, O., Deconinck, T., Craiu, D., Helbig, I., Suls, A., Balling, R., Weckhuysen, S., De Jonghe, P., Hirst, J., AR working group of the EuroEPINOMICS RES Con
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Volume:
24
Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddu740
Date:
April, 2015
File:
PDF, 438 KB
english, 2015
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