Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.
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Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis. / Ericson, Kim Göransdotter; Fadeel, Bengt; Andersson, Mats; Gudmundsson, Gudmundur H; Gürgey, Aytemiz; Yalman, Nevin; Janka-Schaub, Gritta; Nordenskjöld, Magnus; Henter, Jan-Inge.
In: HUM GENET, Vol. 112, No. 1, 1, 2003, p. 98-99.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.
AU - Ericson, Kim Göransdotter
AU - Fadeel, Bengt
AU - Andersson, Mats
AU - Gudmundsson, Gudmundur H
AU - Gürgey, Aytemiz
AU - Yalman, Nevin
AU - Janka-Schaub, Gritta
AU - Nordenskjöld, Magnus
AU - Henter, Jan-Inge
PY - 2003
Y1 - 2003
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 112
SP - 98
EP - 99
JO - HUM GENET
JF - HUM GENET
SN - 0340-6717
IS - 1
M1 - 1
ER -