期刊
HAEMATOLOGICA
卷 93, 期 2, 页码 309-310出版社
FERRATA STORTI FOUNDATION
DOI: 10.3324/haematol.11942
关键词
hemochromatosis; iron overload; DHPLC
类别
资金
- MIUR-PRIN 06 grant
- EEC FP6 grant EU [LSHM-CT-2006-037296 EuroIron1]
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.
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