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Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia

โœ Scribed by Tsutomu Sato; Satoshi Iyama; Kazuyuki Murase; Yusuke Kamihara; Kaoru Ono; Shohei Kikuchi; Kohichi Takada; Koji Miyanishi; Yasushi Sato; Rishu Takimoto; Masayoshi Kobune; Junji Kato


Book ID
107619325
Publisher
Carden Jennings Publishing
Year
2011
Tongue
English
Weight
166 KB
Volume
94
Category
Article
ISSN
0925-5710

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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