Biasiotto Giorgio, Camaschella Clara, Forni Gian Luca, Polotti Anna, Zecchina Gabriella, Arosio Paolo
Haematologica. 2008 Feb;93(2):309-10. doi: 10.3324/haematol.11942.
This work describes the identification of two subjects with young-age iron overload carrying new causative mutations in transferrin receptor-2 gene. One was compound heterozygous (Asn411del/Ala444Thr) and the second was homozygous for a mutation affecting RNA splicing (IVS17+5636G>A). Another mutation (His33Asn) and a polymorphism were found in a group of 50 controls.
这项研究描述了两名患有早发性铁过载的受试者，他们的转铁蛋白受体-2基因携带新的致病突变。其中一名是复合杂合子（Asn411del/Ala444Thr），另一名是影响RNA剪接的突变纯合子（IVS17+5636G>A）。在一组50名对照中发现了另一个突变（His33Asn）和一个多态性。
