Factor VII deficiency

Immunological characterization of genetic variants and detection of carriers

G. Mariani, M. G. Mazzucconi, J. Hermans, N. Ciavarella, A. Faiella, H. J. Hassan, P. M. Mannucci, G. G. Nenci, M. Orlando, D. Romoli, F. Mandelli

Research output: Contribution to journalArticle

32 Citations (Scopus)

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 languageEnglish
Pages (from-to)7-14
Number of pages8
JournalBritish Journal of Haematology
Volume48
Issue number1
Publication statusPublished - 1981

Fingerprint

Heterozygote Detection
Factor VII Deficiency
Factor VII
factor VII related antigen

ASJC Scopus subject areas

  • Hematology

Cite this

Mariani, G., Mazzucconi, M. G., Hermans, J., Ciavarella, N., Faiella, A., Hassan, H. J., ... Mandelli, F. (1981). Factor VII deficiency: Immunological characterization of genetic variants and detection of carriers. British Journal of Haematology, 48(1), 7-14.

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 journalArticle

Mariani, G, Mazzucconi, MG, Hermans, J, Ciavarella, N, Faiella, A, Hassan, HJ, Mannucci, PM, Nenci, GG, Orlando, M, Romoli, D & Mandelli, F 1981, 'Factor VII deficiency: Immunological characterization of genetic variants and detection of carriers', British Journal of Haematology, vol. 48, no. 1, pp. 7-14.
Mariani G, Mazzucconi MG, Hermans J, Ciavarella N, Faiella A, Hassan HJ et al. Factor VII deficiency: Immunological characterization of genetic variants and detection of carriers. British Journal of Haematology. 1981;48(1):7-14.
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. / Factor VII deficiency : Immunological characterization of genetic variants and detection of carriers. In: British Journal of Haematology. 1981 ; Vol. 48, No. 1. pp. 7-14.
@article{d74aaeb2c6c04cd0a1dfbe601590b2c5,
title = "Factor VII deficiency: Immunological characterization of genetic variants and detection of carriers",
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.",
author = "G. Mariani and Mazzucconi, {M. G.} and J. Hermans and N. Ciavarella and A. Faiella and Hassan, {H. J.} and Mannucci, {P. M.} and Nenci, {G. G.} and M. Orlando and D. Romoli and F. Mandelli",
year = "1981",
language = "English",
volume = "48",
pages = "7--14",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "John Wiley & Sons, Ltd (10.1111)",
number = "1",

}

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 -