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.
Edison
Eunice S
ES
Athiyarath
Rekha
R
Rajasekar
Thirugnanam
T
Westerman
Mark
M
Srivastava
Alok
A
Chandy
Mammen
M
D000328:Adult; D018798:Anemia, Iron-Deficiency / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D012697:Serine Endopeptidases / Q000235:genetics*; D057057:Serine Proteases / Q000235:genetics*
D008565:Membrane Proteins; D022821:RNA Splice Sites; D057057:Serine Proteases; D012697:Serine Endopeptidases; C504318:TMPRSS6 protein, human