HIGHLIGHTS
- who: Andreas Hentschel from the Department of Clinical Neurosciences, John Van Geest University of Cambridge, Cambridge, UK have published the research: A Homozygous, in the Journal: (JOURNAL)
- what: This approach was prompted by the fact that proteomics was demonstrated to be a suitable technique to identify processes taking place in neurological diseases and thus applied on fibroblasts derived from a patient carrying the first homozygous splice variant described for this gene. The authors report on the first PPP1R21 patient, harboring a homozygous splice variant (c.748-3A > G), providing associated phenotypical data and clinical comparisons . . .
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