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A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly
In this report, we describe a Korean patient with May-Hegglin anomaly from a mutation of the MYH9 gene. The proband was a 21-year-old man with thrombocytopenia. He did not have a bleeding tendency. His neutrophil count was normal at 7490/mm(3); however, the neutrophils contained abnormal basophilic...
Autores principales: | Jang, Moon Ju, Park, Hyun-Jeong, Chong, So Young, Huh, Ji Young, Kim, In-Ho, Jang, Ja-Hyun, Kim, Hee-Jin, Oh, Doyeun |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Yonsei University College of Medicine
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3343441/ https://www.ncbi.nlm.nih.gov/pubmed/22477015 http://dx.doi.org/10.3349/ymj.2012.53.3.662 |
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