Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease‐causing mutations

Establishing a precise diagnosis is essential in inborn haematological cytopenias to enable appropriate treatment decisions and avoid secondary organ damage. However, both diversity and phenotypic overlap of distinct disease entities may make the identification of underlying genetic aetiologies by c...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Br J Haematol
Main Authors: Kager, Leo, Jimenez Heredia, Raúl, Hirschmugl, Tatjana, Dmytrus, Jasmin, Krolo, Ana, Müller, Heiko, Bock, Christoph, Zeitlhofer, Petra, Dworzak, Michael, Mann, Georg, Holter, Wolfgang, Haas, Oskar, Boztug, Kaan
פורמט: Artigo
שפה:Inglês
יצא לאור: John Wiley and Sons Inc. 2018
נושאים:
Paediatrics
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6079646/
https://ncbi.nlm.nih.gov/pubmed/29797310
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bjh.15389
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