Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
Osborn, Daniel P.S., Pond, Heather L., Mazaheri, Neda, Dejardin, Jeremy, Munn, Christopher J., Mushref, Khaloob, Cauley, Edmund S., Moroni, Isabella, Pasanisi, Maria Barbara, Sellars, Elizabeth A., HiТом:
100
Мова:
english
Журнал:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2017.01.019
Date:
March, 2017
Файл:
PDF, 2.31 MB
english, 2017