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Journals and Conferences
We have shown in vitro AL-amyloid formation by human mesangial cells (HMCs). AL-amyloid formation may require lysosomal processing of the light chains (LCs) by HMCs for amyloidogenesis to occur.… (More)
We present a case of Bernard Soulier syndrome in a 9-year-old boy caused by a novel genetic mutation. This child was shown to be homozygous for a single nucleotide deletion (c.1077delG) in the GP1BA… (More)
11th Meeting of the Irish Society of Human Genetics, Friday 12th September 2008 Institute of Molecular Medicine, St. James’s Hospital, Dublin.