Two novel mutations, L490R and V561X, in transferrin receptor 2 in Japanese patients with hemochromatosis.
Bergamaschi
Gaetano
G
Medicina Interna ed Oncologia Medica, Policlinico S. Matteo, Pavia, Italy. n.bergamaschi@smatteo.pv.it
D000328:Adult; D005260:Female; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D017720:Molecular Epidemiology; D020125:Mutation, Missense; D011990:Receptors, Transferrin / Q000235:genetics*
D011990:Receptors, Transferrin; C503640:TFR2 protein, human