A novel missense mutation c.470 A>C (p.D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinaemia
Br J Haematol
.
2010 Jun;149(6):914-6.
doi: 10.1111/j.1365-2141.2010.08137.x.
Epub 2010 Mar 3.
Authors
Khalid Saja
,
Patricia Bignell
,
Kathryn Robson
,
Drew Provan
PMID:
20230395
DOI:
10.1111/j.1365-2141.2010.08137.x
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Cation Transport Proteins / genetics*
Female
Ferritins / blood*
Hemochromatosis / genetics*
Humans
Male
Middle Aged
Mutation, Missense*
Substances
Cation Transport Proteins
metal transporting protein 1
Ferritins