Two novel mutations in the tmprss6 gene associated with iron-refractory iron-deficiency anaemia (irida) and partial expression in the heterozygous form

British Journal of Haematology

Volumn 158, Issue 5, 2012, Pages 668-672

  Pellegrino, Rosa M ^a   Coutinho, Maria ^b   D'Ascola, Domenico ^c   Lopes, Ana M ^d   Palmieri, Antonietta ^a   Carnuccio, Francesca ^a   Costa, Mónica ^d   Zecchina, Gabriella ^a   Saglio, Giuseppe ^a   Costa, Emília ^b   Barbot, José ^b   Porto, Graça ^b,d   Pinto, Jorge P ^d   Roetto, Antonella ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^c Azienda Ospedaliera Reggio Calabria   (Italy)

^d UNIVERSITY OF PORTO   (Portugal)

Author keywords

Anaemia; Hepcidin; Iron

Indexed keywords

IRON; MESSENGER RNA;

CASE REPORT; CHILD; DISEASE PREDISPOSITION; FEMALE; GENE; GENE EXPRESSION PROFILING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; IRON BLOOD LEVEL; IRON DEFICIENCY ANEMIA; LETTER; MICROCYTIC ANEMIA; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; TMPRSS6 GENE; TREATMENT RESPONSE;

ADMINISTRATION, ORAL; ANEMIA, IRON-DEFICIENCY; CHILD; DRUG RESISTANCE; EXONS; FEMALE; HEMATINICS; HETEROZYGOTE; HUMANS; IRON; MEMBRANE PROTEINS; MUTATION; PEDIGREE; SERINE ENDOPEPTIDASES;

EID: 84865112610     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2012.09198.x     Document Type: Letter

References (6)

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