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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Paediatrics
Acesso em linha: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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