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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Paediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079646/
https://www.ncbi.nlm.nih.gov/pubmed/29797310
http://dx.doi.org/10.1111/bjh.15389

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079646/
https://www.ncbi.nlm.nih.gov/pubmed/29797310
http://dx.doi.org/10.1111/bjh.15389

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