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Esophageal intramural pseudodiverticulosis-associated with severe iron deficiency anemia

โœ Scribed by Vijay Arya; Prag Gupta; Nivedita Bansal; Yashpal Arya; Shyam Goyal; Shailaja Daminini; Manish Singhal; Vandana Bindal


Book ID
119389142
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
26 KB
Volume
95
Category
Article
ISSN
0002-9270

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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