A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia

British Journal of Haematology

Volumn 147, Issue 5, 2009, Pages 766-769

  Edison, Eunice S ^a   Athiyarath, Rekha ^a   Rajasekar, Thirugnanam ^a   Westerman, Mark ^b   Srivastava, Alok ^a   Chandy, Mammen ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

^b Intrinsic Life Sciences   (United States)

Author keywords

India; Iron deficiency; TMPRSS6

Indexed keywords

HEPCIDIN; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2; SERINE PROTEINASE; TRANSMEMBRANE SERINE PROTEASE 6; UNCLASSIFIED DRUG;

BINDING SITE; EXON; GENE DELETION; GENE MUTATION; HOMEOSTASIS; HUMAN; IRON DEFICIENCY ANEMIA; LETTER; PRIORITY JOURNAL; RNA SPLICING;

ADULT; ANEMIA, IRON-DEFICIENCY; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; RNA SPLICE SITES; SERINE ENDOPEPTIDASES; SERINE PROTEASES;

EID: 70449344638     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2009.07879.x     Document Type: Letter

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