Abstract
Twenty-one patients with congenital factor VII deficiency belonging to 16 different kindreds were investigated. The existence of three immunochemical variants on the ground of factor VII activity (VII:C) and factor VII-related antigen (VII:Ag) levels (VII -, VII + and VII(R)) was established. There was no correlation between the presence of factor VII:Ag and either the clinical picture or the specific function as studied with the K(m) calculations. Genetically the mode of inheritance is the same whatever the immunological variant, but the identification of carriers is simplified when the presence of factor VII-related antigen is assayed throughout a kindred.
| Original language | English |
|---|---|
| Pages (from-to) | 7-14 |
| Number of pages | 8 |
| Journal | British Journal of Haematology |
| Volume | 48 |
| Issue number | 1 |
| Publication status | Published - 1981 |
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ASJC Scopus subject areas
- Hematology
Cite this
Factor VII deficiency : Immunological characterization of genetic variants and detection of carriers. / Mariani, G.; Mazzucconi, M. G.; Hermans, J.; Ciavarella, N.; Faiella, A.; Hassan, H. J.; Mannucci, P. M.; Nenci, G. G.; Orlando, M.; Romoli, D.; Mandelli, F.
In: British Journal of Haematology, Vol. 48, No. 1, 1981, p. 7-14.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Factor VII deficiency
T2 - Immunological characterization of genetic variants and detection of carriers
AU - Mariani, G.
AU - Mazzucconi, M. G.
AU - Hermans, J.
AU - Ciavarella, N.
AU - Faiella, A.
AU - Hassan, H. J.
AU - Mannucci, P. M.
AU - Nenci, G. G.
AU - Orlando, M.
AU - Romoli, D.
AU - Mandelli, F.
PY - 1981
Y1 - 1981
N2 - Twenty-one patients with congenital factor VII deficiency belonging to 16 different kindreds were investigated. The existence of three immunochemical variants on the ground of factor VII activity (VII:C) and factor VII-related antigen (VII:Ag) levels (VII -, VII + and VII(R)) was established. There was no correlation between the presence of factor VII:Ag and either the clinical picture or the specific function as studied with the K(m) calculations. Genetically the mode of inheritance is the same whatever the immunological variant, but the identification of carriers is simplified when the presence of factor VII-related antigen is assayed throughout a kindred.
AB - Twenty-one patients with congenital factor VII deficiency belonging to 16 different kindreds were investigated. The existence of three immunochemical variants on the ground of factor VII activity (VII:C) and factor VII-related antigen (VII:Ag) levels (VII -, VII + and VII(R)) was established. There was no correlation between the presence of factor VII:Ag and either the clinical picture or the specific function as studied with the K(m) calculations. Genetically the mode of inheritance is the same whatever the immunological variant, but the identification of carriers is simplified when the presence of factor VII-related antigen is assayed throughout a kindred.
UR - http://www.scopus.com/inward/record.url?scp=0019447693&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0019447693&partnerID=8YFLogxK
M3 - Article
VL - 48
SP - 7
EP - 14
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 1
ER -