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Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.
Bastida JM, Morais S, Palma-Barqueros V, Benito R, Bermejo N, Karkucak M, Trapero-Marugan M, Bohdan N, Pereira M, Marin-Quilez A, Oliveira J, Yucel Y, Santos R, Padilla J, Janusz K, Lau C, Martin-Izquierdo M, Couto E, Francisco Ruiz-Pividal J, Vicente V, Hernández-Rivas JM, González-Porras JR, Luisa Lozano M, Lima M, Rivera J. Bastida JM, et al. Among authors: lima m. Ann Med. 2019 Mar;51(2):141-148. doi: 10.1080/07853890.2019.1587498. Epub 2019 Apr 16. Ann Med. 2019. PMID: 30990103 Free PMC article.
Lymphocyte gene expression signatures from patients and mouse models of hereditary hemochromatosis reveal a function of HFE as a negative regulator of CD8+ T-lymphocyte activation and differentiation in vivo.
Costa M, Cruz E, Oliveira S, Benes V, Ivacevic T, Silva MJ, Vieira I, Dias F, Fonseca S, Gonçalves M, Lima M, Leitão C, Muckenthaler MU, Pinto J, Porto G. Costa M, et al. Among authors: lima m. PLoS One. 2015 Apr 16;10(4):e0124246. doi: 10.1371/journal.pone.0124246. eCollection 2015. PLoS One. 2015. PMID: 25880808 Free PMC article.
4,910 results