PMC:3654953 / 27227-27881 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/3654953","sourcedb":"PMC","sourceid":"3654953","source_url":"https://www.ncbi.nlm.nih.gov/pmc/3654953","text":"LM performed genetic screening and protein characterization. HW, XL, WL were involved in exome-sequencing and bio-informatic analysis, under the supervision of FM and JZ. VF and MM analyzed the morphology of mutant fibroblasts. IC supplied U251 cells and suggestions for transfection studies. LF and MS evaluated the MRI. PDA performed haplotypes analysis. AC, SR and MZ evaluated the patients and wrote the case report. DG monitored genetic/protein analyses, prioritized Pt2 variants, and drafted the paper. MZ supervised all the study, drafted and revised the paper. All authors read and approved the final manuscript. LM and MF share first authorship.","tracks":[]}