The heterozygous R1441C mutation of leucine-rich repeat kinase 2 gene in a Chinese patient with Parkinson disease: A five-year follow-up and literatures review
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DOI: 10.1016/j.jns.2016.12.009
Abstract: BACKGROUND Leucine-rich repeat kinase 2 gene (LRRK2) was recognized associated with both familial and sporadic Parkinson Disease (PD). Seven missense mutations (G2019S, R1441C, R1441G, R1441H, Y1699C, I2020T, N1437H) of it have been confirmed disease- causing.… read more here.
Keywords: kinase gene; leucine rich; disease; repeat kinase ... See more keywords
Spectrum of kinase gene rearrangements in a large series of paediatric inflammatory myofibroblastic tumours.
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DOI: 10.1111/his.14912
Abstract: INTRODUCTION Inflammatory myofibroblastic tumours (IMTs), being an exceptionally rare category of paediatric neoplasms, often contain druggable gene rearrangements involving tyrosine kinases. METHODS AND RESULTS This study presents a large consecutive series of IMTs which were… read more here.
Keywords: myofibroblastic tumours; series; kinase gene; gene rearrangements ... See more keywords