Identification of one novel and three other point mutations in the proteinC gene of five unrelated Brazilian patients with hereditary protein C deficiency

Authors
Singh, YS Arruda, VR Ozello, MC Machado, TFGS Annichino-Bizzachi, JM
Citation
Ys. Singh et al., Identification of one novel and three other point mutations in the proteinC gene of five unrelated Brazilian patients with hereditary protein C deficiency, HAEMATOLOG, 85(8), 2000, pp. 891-893
Citations number
7
Categorie Soggetti
Cardiovascular & Hematology Research
Journal title
HAEMATOLOGICA
ISSN journal
03906078 → ACNP
Volume
85
Issue
8
Year of publication
2000
Pages
891 - 893
Database
ISI
SICI code
0390-6078(200008)85:8<891:IOONAT>2.0.ZU;2-S
Abstract
Hereditary protein C (PC) deficiency is an autosomally inherited disorder a ssociated with a high risk of thrombosis.(1-5) We report three previously d escribed point mutations(6) and one novel mutation (family E) in five Brazi lian families with PC deficiency.