Citation
Ni. Noguera et al., Homozygous Constant Spring: the first case described in the West, HAEMATOLOG, 85(6), 2000, pp. 667-669
Citations number
7
Categorie Soggetti
Cardiovascular & Hematology Research
Journal title
HAEMATOLOGICA
ISSN journal
03906078
→ ACNP
Volume
85
Issue
6
Year of publication
2000
Pages
667 - 669
Database
ISI
SICI code
0390-6078(200006)85:6<667:HCSTFC>2.0.ZU;2-S
Abstract
In this work we present the clinical and laboratory data and the molecular
identification of homozygosity for Constant Spring in an Argentinian man wi
th parents of Sicilian origin (Palermo). The presence of this mutation in t
he homozygous form in the West and the difficulty of detecting it in hetero
zygotes by classical methods suggest that probably more cases exist.