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...

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Dettagli Bibliografici
Pubblicato in:Br J Haematol
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2018
Soggetti:
Paediatrics
Accesso online: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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