A Dysfunctional Factor X (Factor X San Giovanni Rotondo) Present at Homozygous and Double Heterozygous Level: Identification of a Novel Microdeletion (delC556) and Missense Mutation (Lys408→Asn) in the Factor X Gene
- 1 February 2001
- journal article
- case report
- Published by Elsevier in Thrombosis Research
- Vol. 101 (4) , 219-230
- https://doi.org/10.1016/s0049-3848(00)00406-0
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patientsBritish Journal of Haematology, 1998
- Factor X and its deficiency statesHaemophilia, 1997
- Inherited Factor X Deficiency: Molecular Genetics and PathophysiologyThrombosis and Haemostasis, 1997
- Biochemistry of factor XBlood Reviews, 1994
- Tentative and Updated Classification of Factor X VariantsActa Haematologica, 1986
- Heterogeneity of hereditary and acquired factor X deficiencies by combined immunochemical and functional analysesBritish Journal of Haematology, 1985
- Factor X Padua: A ‘New’ Congenital Factor X Abnormality with a Defect Only in the Extrinsic SystemActa Haematologica, 1985
- A family with heterozygous factor X friuli defect outside friuliAnnals of Hematology, 1983
- A new sensitive and highly specific chromogenic peptide substrate for Factor XaThrombosis Research, 1977
- A ‘New’ Congenital Haemorrhagic Condition due to the Presence of an Abnormal Factor X (Factor X Friuli): Study of a Large KindredBritish Journal of Haematology, 1970