A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2

Blood

Volumn 129, Issue 25, 2017, Pages 3392-3395

  Pagani, Alessia ^a   Colucci, Silvia ^a   Bocciardi, Renata ^b,c   Bertamino, Marta ^c   Dufour, Carlo ^c   Ravazzolo, Roberto ^b,c   Silvestri, Laura ^a   Camaschella, Clara ^a  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 2; PROTEIN SERINE THREONINE KINASE; UNCLASSIFIED DRUG; ACTIVIN RECEPTOR 1; ACVR1 PROTEIN, HUMAN; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; HEPCIDIN; HFE2 PROTEIN, HUMAN; MEMBRANE PROTEIN; SERINE PROTEINASE; TMPRSS6 PROTEIN, HUMAN;

ACVR1A GENE; GENE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; IRON DEFICIENCY ANEMIA; LETTER; OSSIFICATION; PRIORITY JOURNAL; TMPRSS6 GENE; BIOSYNTHESIS; CELL CULTURE; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; LIVER; METABOLISM; MISSENSE MUTATION; OSSIFYING MYOSITIS; PHYSIOLOGY; POINT MUTATION; PRESCHOOL CHILD; SIGNAL TRANSDUCTION; UPREGULATION;

ACTIVIN RECEPTORS, TYPE I; ANEMIA, IRON-DEFICIENCY; CELLS, CULTURED; CHILD, PRESCHOOL; FEMALE; GPI-LINKED PROTEINS; HEPCIDINS; HETEROZYGOTE; HUMANS; LIVER; MEMBRANE PROTEINS; MUTATION, MISSENSE; MYOSITIS OSSIFICANS; POINT MUTATION; SERINE ENDOPEPTIDASES; SIGNAL TRANSDUCTION; UP-REGULATION;

EID: 85021684348     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2017-03-773481     Document Type: Letter

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