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Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia

โœ Scribed by E. Beutler; C. Van Geet; D.M.W.M. te Loo; T. Gelbart; K. Crain; J. Truksa; P.L. Lee


Book ID
116304706
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
272 KB
Volume
44
Category
Article
ISSN
1079-9796

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Novel TMPRSS6 mutations associated with
โœ Luigia De Falco; Francesca Totaro; Antonella Nai; Alessia Pagani; Domenico Girel ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 441 KB

Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. In this paper we describe 12 IRIDA patients belonging to 7 unrelated families and identify 10 (9 novel) TMPRSS6 mutati