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Two novel mutations in the tmprss6 gene associated with iron‐refractory iron‐deficiency anaemia (irida) and partial expression in the heterozygous form
Author(s) -
Pellegrino Rosa M.,
Coutinho Maria,
D'Ascola Domenico,
Lopes Ana M.,
Palmieri Antonietta,
Carnuccio Francesca,
Costa Mónica,
Zecchina Gabriella,
Saglio Giuseppe,
Costa Emília,
Barbot José,
Porto Graça,
Pinto Jorge P.,
Roetto Antonella
Publication year - 2012
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2012.09198.x
Subject(s) - tmprss6 , compound heterozygosity , iron deficiency , hepcidin , proband , ferritin , serum iron , iron deficiency anemia , microcytic anemia , medicine , mutation , genetics , endocrinology , anemia , biology , gene , biochemistry , serine protease , protease , enzyme