doi: 10.1007/s00439-002-0841-0.
Epub 2002 Oct 11.
Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis
Affiliations
- PMID: 12483306
- DOI: 10.1007/s00439-002-0841-0
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Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis
Hum Genet.
2003 Jan.
Abstract
Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder of immune regulation. Mutations in the gene encoding perforin were previously identified in a subset of FHL patients. The present analysis of two novel candidate genes, granzyme B and granulysin, by direct sequencing in a total of 16 FHL families, disclosed several sequence variations. However, none of these sequence variations were associated with the manifestations of FHL. These data do not support the notion that granulysin and granzyme B are candidate genes for FHL.
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