CareLit · DOI-Nachweis · Klinische Pädiatrie
Identification of new leukemia associated gene mutations by whole genome sequencing of DNA from two siblings with congenital neutropenia and secondary AML
DOI 10.1055/s-0033-1343618
Bibliografische Angaben
Nachweis in CareLit
Autor:innenM Klimiankou, S Kandabarau, M Reuter, AL Hagemann, C Zeidler, K Welte, J Skokowa
ZeitschriftKlinische Pädiatrie
Ausgabe05/2013
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
We have performed a whole genome sequencing (WGS) of DNA samples from a family with two affected siblings suffering from CN. Both children harbored ELANE gene mutations and developed AML. Father of the children demonstrates somatic mosaicism for the ELANE mutation and has a mild neutropenia. For WGS we used Complete Genomics technology (Complete Genomics, USA). More than 90% of genomes were sequenced at high quality…
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Zitierempfehlung
M Klimiankou, S Kandabarau, M Reuter, AL Hagemann, C Zeidler, K Welte, J Skokowa (2013) Identification of new leukemia associated gene mutations by whole genome sequencing of DNA from two siblings with congenital neutropenia and secondary AML. Klinische Pädiatrie (05). https://doi.org/10.1055/s-0033-1343618
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