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Ultima descărcare din IBN: 2023-12-18 11:07 |
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612.017.1-53.2:577.27 (1) |
Fiziologie. Fiziologie umană și comparată (765) |
Bazele materiale ale vieții. Biochimie. Biologie moleculară. Biofizică (702) |
SM ISO690:2012 DORIF, Alexandr, SECU, Doina, SAKARA, Viktoria K.. Wiskott-Aldrich syndrome at children — diagnostic particularities. In: Imunopedia, Ed. Ediția a 2-a, 9-10 septembrie 2022, Chişinău. Chişinău: Centrul Editorial-Poligrafic Medicina, 2022, Ediția a 2-a, pp. 49-55. ISBN 978-9975-82-300-5. |
EXPORT metadate: Google Scholar Crossref CERIF DataCite Dublin Core |
Imunopedia Ediția a 2-a, 2022 |
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Conferința "Imunopedia" Ediția a 2-a, Chişinău, Moldova, 9-10 septembrie 2022 | ||||||||
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CZU: 612.017.1-53.2:577.27 | ||||||||
Pag. 49-55 | ||||||||
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Wiskott-Aldrich syndrome is a form of primary immune deficiency combined with thrombocytopenia and for a long time it was thought it is a single one with such symptoms, but now phenocopies are known. Another problem with this syndrome is a common problem of all primary immune deficiencies — majority of medical workers know very little about this group of diseases what leads to a very long times from the debute of disease to the specific diagnosis. Because of that, we shortly describe criteria for Wiskott-Aldrich and rekated disorders diagnostic and how we are performing molecular genetic diagnostic of it. |
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Cuvinte-cheie Wiskott-Aldrich syndrome, WAS, Sanger sequencing, SSCP |
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