Published in
Elsevier, European Journal of Medical Genetics
DOI: 10.1016/j.ejmg.2018.06.009
Links
Tools
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay
Journal article published in 2018 by
Karen J. Low,
J. Baptista 
,
M. Babiker,
R. Caswell,
C. King,
S. Ellard,
I. Scurr
,
M. Babiker,
R. Caswell,
C. King,
S. Ellard,
I. Scurr
This paper was not found in any repository, but could be made available legally by the author.
Full text: Unavailable
Published version:
archiving forbidden
Data provided by 