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Published in 2024 at "Cancer Medicine"
DOI: 10.1002/cam4.70340
Abstract: Pseudomyxoma peritonei (PMP) is an unusual condition with unique behaviour caused by a mucinous neoplasm, usually arising from the appendix. The aim of this study was to evaluate the prevalence of genomic alterations in clinical…
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Keywords:
targeted genetic;
peritonei;
genetic sequencing;
analysis 223 ... See more keywords
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Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.794
Abstract: Fabry disease (FD) is an X‐linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha‐galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay between symptom onset…
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Keywords:
targeted genetic;
analysis successful;
fabry pedigree;
pedigree analysis ... See more keywords
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Published in 2024 at "Molecular Microbiology"
DOI: 10.1111/mmi.15337
Abstract: Immediately after invading their chosen host cell, the mature human erythrocyte, malaria parasites begin to export an array of proteins to this compartment, where they initiate processes that are prerequisite for parasite survival and propagation,…
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Keywords:
targeted genetic;
proteins involved;
genetic screen;
screen identifies ... See more keywords