| Literature DB >> 12483306 |
Kim Göransdotter Ericson1, Bengt Fadeel, Mats Andersson, Gudmundur H Gudmundsson, Aytemiz Gürgey, Nevin Yalman, Gritta Janka, Magnus Nordenskjöld, Jan-Inge Henter.
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.Entities:
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Year: 2002 PMID： 12483306 DOI： 10.1007/s00439-002-0841-0
Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132