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Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis

dc.contributor.authorAndersson, M
dc.contributor.authorGurgey, A
dc.contributor.authorYalman, N
dc.contributor.authorJanka, G
dc.contributor.authorNordenskjold, M
dc.contributor.authorHenter, JI
dc.contributor.authorEricson, KG
dc.contributor.authorFadeel, B
dc.contributor.authorGudmundsson, GH
dc.date.accessioned2021-03-04T12:59:06Z
dc.date.available2021-03-04T12:59:06Z
dc.date.issued2003
dc.identifier.citationEricson K., Fadeel B., Andersson M., Gudmundsson G., Gurgey A., Yalman N., Janka G., Nordenskjold M., Henter J., "Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis", HUMAN GENETICS, cilt.112, sa.1, ss.98-99, 2003
dc.identifier.issn0340-6717
dc.identifier.othervv_1032021
dc.identifier.otherav_7a18858a-65ff-428c-80dd-8c5510a1b851
dc.identifier.urihttp://hdl.handle.net/20.500.12627/83652
dc.identifier.urihttps://doi.org/10.1007/s00439-002-0841-0
dc.description.abstractFamilial 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.
dc.language.isoeng
dc.subjectTıbbi Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.titleSequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis
dc.typeMakale
dc.relation.journalHUMAN GENETICS
dc.contributor.department, ,
dc.identifier.volume112
dc.identifier.issue1
dc.identifier.startpage98
dc.identifier.endpage99
dc.contributor.firstauthorID167364


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