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REFRACTORY HYPOCHROMIC ANEMIA AND STEATORRHŒA TREATMENT WITH INTRAVENOUS IRON

✍ Scribed by Hawkins, C.F.; Peeney, A.L.P.; Trevor Cooke, W.


Book ID
122525846
Publisher
The Lancet
Year
1950
Tongue
English
Weight
961 KB
Volume
256
Category
Article
ISSN
0140-6736

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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