A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis

We report the first Far Eastern case of a Korean child with familial hemophagocytic lymphohistiocytosis (HLH) caused by a novel syntaxin 11 (STX11) mutation. A 33-month-old boy born to non-consanguineous Korean parents was admitted for intermittent fever lasting one week, pancytopenia, hepatosplenom...

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Detalhes bibliográficos
Publicado no:Ann Lab Med
Main Authors: Sultanova, Ardak K., Kim, Seong-koo, Lee, Jae Wook, Jang, Pil-Sang, Chung, Nack-Gyun, Cho, Bin, Park, Joonhong, Kim, Yonggoo, Kim, Myungshin
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4713852/
https://ncbi.nlm.nih.gov/pubmed/26709266
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2016.36.2.170
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