Published in
Oxford University Press (OUP), Human Molecular Genetics, 7(24), p. 2000-2010
DOI: 10.1093/hmg/ddu614
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Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
Journal article published in 2014 by
Raman Kumar,
Mark A. Corbett,
Nicholas Jc C. Smith,
Lachlan A. Jolly 
,
Chuan Tan,
Damien J. Keating ,
Michael D. Duffield,
Toshihiko Utsumi,
Alexander Hoischen ,
Joshua A. Woenig,
Koko Moriya,
Kim Abbott,
Katherine R. Smith,
Michael G. Harbord,
Nienke Wieskamp
and other authors.
,
Chuan Tan,
Damien J. Keating ,
Michael D. Duffield,
Toshihiko Utsumi,
Alexander Hoischen ,
Joshua A. Woenig,
Koko Moriya,
Kim Abbott,
Katherine R. Smith,
Michael G. Harbord,
Nienke Wieskamp
and other authors.
This paper is made freely available by the publisher.
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