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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2010-5-20
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pubmed:abstractText |
Mutations in STX11 are responsible for Familial Hemophagocytic Lymphohistiocytosis (FHLH) type 4, a rare primary immunodeficiency which has previously been observed only in patients of Kurdish, Turkish, and Lebanese ethnic background.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1545-5017
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
15
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pubmed:volume |
55
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
134-40
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pubmed:meshHeading |
pubmed-meshheading:20486178-Adult,
pubmed-meshheading:20486178-Child, Preschool,
pubmed-meshheading:20486178-DNA, Neoplasm,
pubmed-meshheading:20486178-DNA Mutational Analysis,
pubmed-meshheading:20486178-Humans,
pubmed-meshheading:20486178-Infant,
pubmed-meshheading:20486178-Infant, Newborn,
pubmed-meshheading:20486178-Killer Cells, Natural,
pubmed-meshheading:20486178-Lymphohistiocytosis, Hemophagocytic,
pubmed-meshheading:20486178-Male,
pubmed-meshheading:20486178-Mutation,
pubmed-meshheading:20486178-North America,
pubmed-meshheading:20486178-Pedigree,
pubmed-meshheading:20486178-Phenotype,
pubmed-meshheading:20486178-Qa-SNARE Proteins,
pubmed-meshheading:20486178-Siblings
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pubmed:year |
2010
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pubmed:articleTitle |
STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America.
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pubmed:affiliation |
Division of Bone Marrow Transplant and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. rebecca.marsh@cchmc.org
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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