Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Pubmed ID: 
25504045
Year: 
2015
Month: 
APR
Volume: 
24
Issue: 
7
Citation: 
Kumar R, Corbett MA, Smith NJ, Jolly LA, Tan C, Keating DJ, Duffield MD, Utsumi T, Moriya K, Smith KR, Hoischen A, Abbott K, Harbord MG, Compton AG, Woenig JA, Arts P, Kwint M, Wieskamp N, Gijsen S, Veltman JA, Bahlo M, Gleeson JG, Haan E, Gecz J. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. HUMAN MOLECULAR GENETICS 24 (7) : 2000 - 10(2015) PubMed