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Impaired immunocompetence associated with iron deficiency

โœ Scribed by R.K. Chandra; A.K. Saraya


Book ID
118538490
Publisher
Elsevier Science
Year
1975
Tongue
English
Weight
352 KB
Volume
86
Category
Article
ISSN
1097-6833

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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