The American Journal of Human Genetics, Volume 82, Issue 4, 992-1002 11 April 2008
doi:10.1016/j.ajhg.2008.03.004
Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome
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