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STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5
BACKGROUND: Familial haemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with uncontrolled inflammation; the clinical course usually starts within the first years of life, and is usually fatal unless promptly treated and then cured with haematopoietic stem cell transplant. FHL is c...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2010
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4115259/ https://ncbi.nlm.nih.gov/pubmed/20798128 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2009.075341 |
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