Title: A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B
Authors: Vidaud, M ×
Chabret, C
Gazengel, C
Grunebaum, L
Cazenave, J P
Goossens, Marcel #
Issue Date: Oct-1986
Series Title: Blood vol:68 issue:4 pages:961-3
Abstract: We have studied a family of three patients who were severely afflicted with hemophilia B without inhibitor for their factor IX genes through the use of factor IX cDNA and genomic DNA probes. The patients had detectable (30% of normal) factor IX antigen. DNA hybridization analysis demonstrated that these patients had a partial intragenic deletion in their factor IX gene. This 2.8-kb deletion included exon d and the surrounding sequences. This exon codes for the amino acid sequence from No. 47 through 84 of the factor IX protein and contains its first potential EGF domain; the de novo occurrence of the mutation in the grandfather's germ cells was established by linkage analysis. This specific gene has been named F IXStrasbourg.
ISSN: 0006-4971
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Plasma-astrophysics Section
× corresponding author
# (joint) last author

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