Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

Advances in genome sequencing have resulted in the identification of the causes for numerous rare diseases. However, many cases remain unsolved with standard molecular analyses. We describe a family presenting with a phenotype resembling inherited thrombocytopenia 2 (THC2). THC2 is generally caused...

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Detalhes bibliográficos
Publicado no:J Exp Med
Main Authors: Wahlster, Lara, Verboon, Jeffrey M., Ludwig, Leif S., Black, Susan C., Luo, Wendy, Garg, Kopal, Voit, Richard A., Collins, Ryan L., Garimella, Kiran, Costello, Maura, Chao, Katherine R., Goodrich, Julia K., DiTroia, Stephanie P., O’Donnell-Luria, Anne, Talkowski, Michael E., Michelson, Alan D., Cantor, Alan B., Sankaran, Vijay G.
Formato: Artigo
Idioma:Inglês
Publicado em: Rockefeller University Press 2021
Assuntos:
Brief Definitive Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8056752/
https://ncbi.nlm.nih.gov/pubmed/33857290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20210444
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